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{{Infobox_gene}}
{{PBB_Controls
'''Phosphofurin acidic cluster sorting protein 1''' also known as '''PACS-1''' is a [[protein]] that in humans is encoded by the ''PACS1'' [[gene]].<ref name="pmid12855553">{{cite journal | vauthors = Stove V, Naessens E, Stove C, Swigut T, Plum J, Verhasselt B | title = Signaling but not trafficking function of HIV-1 protein Nef is essential for Nef-induced defects in human intrathymic T-cell development | journal = Blood | volume = 102 | issue = 8 | pages = 2925–32 | date = Oct 2003 | pmid = 12855553 | pmc =  | doi = 10.1182/blood-2003-03-0833 }}</ref><ref name="pmid14608369">{{cite journal | vauthors = Hinners I, Wendler F, Fei H, Thomas L, Thomas G, Tooze SA | title = AP-1 recruitment to VAMP4 is modulated by phosphorylation-dependent binding of PACS-1 | journal = EMBO Reports | volume = 4 | issue = 12 | pages = 1182–9 | date = Dec 2003 | pmid = 14608369 | pmc = 1326413 | doi = 10.1038/sj.embor.7400018 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PACS1 phosphofurin acidic cluster sorting protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55690| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Phosphofurin acidic cluster sorting protein 1
| HGNCid = 30032
| Symbol = PACS1
| AltSymbols =; FLJ10209; KIAA1175
| OMIM = 607492
| ECnumber = 
| Homologene = 9970
| MGIid = 1277113
| GeneAtlas_image1 = PBB_GE_PACS1_gnf1h02048_at_tn.png
| GeneAtlas_image2 = PBB_GE_PACS1_gnf1h05641_at_tn.png
| GeneAtlas_image3 = PBB_GE_PACS1_gnf1h02050_x_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0030137 |text = COPI-coated vesicle}}
| Process = {{GNF_GO|id=GO:0000042 |text = protein targeting to Golgi}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 55690
    | Hs_Ensembl = ENSG00000175115
    | Hs_RefseqProtein = NP_060496
    | Hs_RefseqmRNA = NM_018026
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 65594400
    | Hs_GenLoc_end = 65768789
    | Hs_Uniprot = Q6VY07
    | Mm_EntrezGene = 107975
    | Mm_Ensembl = ENSMUSG00000024855
    | Mm_RefseqmRNA = NM_153129
    | Mm_RefseqProtein = NP_694769
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 5133685
    | Mm_GenLoc_end = 5273119
    | Mm_Uniprot = Q3TAB8
  }}
}}
'''Phosphofurin acidic cluster sorting protein 1''', also known as '''PACS1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PACS1 phosphofurin acidic cluster sorting protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55690| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The PACS-1 protein has a putative role in the localization of [[Golgi apparatus|trans-Golgi network]] (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of [[furin]] by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in [[Subtypes of HIV#HIV-1|HIV-1]] [[Nef (protein)|Nef]]-mediated downregulation of cell surface [[MHC class I|MHC-I]] molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance.<ref name="entrez">{{cite web | title = Entrez Gene: PACS1 phosphofurin acidic cluster sorting protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55690| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
PACS1 has been shown to [[Protein-protein interaction|interact]] with [[Furin]].<ref name=pmid9695949>{{cite journal | vauthors = Wan L, Molloy SS, Thomas L, Liu G, Xiang Y, Rybak SL, Thomas G | title = PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization | journal = Cell | volume = 94 | issue = 2 | pages = 205–16 | date = Jul 1998 | pmid = 9695949 | doi = 10.1016/S0092-8674(00)81420-8 }}</ref>
{{refbegin | 2}}
 
{{PBB_Further_reading
== Clinical significance ==
| citations =  
A [[Mutation#Causes|''de novo'' mutation]] c.607C>T in the PACS1 gene has been shown to result in a syndromic phenotype (colloquially called PACS1 Syndrome) that is characterized by [[global developmental delay]], [[intellectual disability]], and specific facial features.<ref name="Schuurs-Hoeijmakers_2012">{{cite journal | vauthors = Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG | title = Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome | journal = Am. J. Hum. Genet. | volume = 91 | issue = 6 | pages = 1122–7 | year = 2012 | pmid = 23159249 | pmc = 3516611 | doi = 10.1016/j.ajhg.2012.10.013 }}</ref><ref>{{OMIM|615009}}</ref>
*{{cite journal | author=Geyer M, Fackler OT, Peterlin BM |title=Structure--function relationships in HIV-1 Nef. |journal=EMBO Rep. |volume=2 |issue= 7 |pages= 580-5 |year= 2001 |pmid= 11463741 |doi= 10.1093/embo-reports/kve141 }}
 
*{{cite journal | author=Leavitt SA, SchOn A, Klein JC, ''et al.'' |title=Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm. |journal=Curr. Protein Pept. Sci. |volume=5 |issue= 1 |pages= 1-8 |year= 2004 |pmid= 14965316 |doi= }}
=== Prevalence and diagnosis ===
*{{cite journal | author=Joseph AM, Kumar M, Mitra D |title=Nef: "necessary and enforcing factor" in HIV infection. |journal=Curr. HIV Res. |volume=3 |issue= 1 |pages= 87-94 |year= 2005 |pmid= 15638726 |doi= }}
 
*{{cite journal | author=Wan L, Molloy SS, Thomas L, ''et al.'' |title=PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization. |journal=Cell |volume=94 |issue= 2 |pages= 205-16 |year= 1998 |pmid= 9695949 |doi= }}
The first two cases were identified in early 2011 by doctors in the Netherlands.<ref name="Schuurs-Hoeijmakers_2012"/> As of late 2014, there were 20 cases identified worldwide.<ref>http://www.pacs1.info/about/</ref>
*{{cite journal | author=Hirosawa M, Nagase T, Ishikawa K, ''et al.'' |title=Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. |journal=DNA Res. |volume=6 |issue= 5 |pages= 329-36 |year= 2000 |pmid= 10574461 |doi= }}
 
*{{cite journal | author=Piguet V, Wan L, Borel C, ''et al.'' |title=HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes. |journal=Nat. Cell Biol. |volume=2 |issue= 3 |pages= 163-7 |year= 2000 |pmid= 10707087 |doi= 10.1038/35004038 }}
Diagnosis is typically done using full genome or exome sequencing.<ref name="pmid22517145">{{cite journal | vauthors = Callaway E | title = Gene hunt is on for mental disability | journal = Nature | volume = 484 | issue = 7394 | pages = 302–3 | year = 2012 | pmid = 22517145 | doi = 10.1038/484302a | url = }}</ref> Both methods are relatively expensive and not widely available. There are likely several more cases that will eventually be reported as knowledge of the mutation spreads and testing becomes more accessible.
*{{cite journal | author=Crump CM, Xiang Y, Thomas L, ''et al.'' |title=PACS-1 binding to adaptors is required for acidic cluster motif-mediated protein traffic. |journal=EMBO J. |volume=20 |issue= 9 |pages= 2191-201 |year= 2001 |pmid= 11331585 |doi= 10.1093/emboj/20.9.2191 }}
 
*{{cite journal | author=Williams M, Roeth JF, Kasper MR, ''et al.'' |title=Direct binding of human immunodeficiency virus type 1 Nef to the major histocompatibility complex class I (MHC-I) cytoplasmic tail disrupts MHC-I trafficking. |journal=J. Virol. |volume=76 |issue= 23 |pages= 12173-84 |year= 2002 |pmid= 12414957 |doi= }}
=== Observed and reported traits ===
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
Individuals with the mutation have been reported to have similar facial features, such as:
*{{cite journal | author=Blagoveshchenskaya AD, Thomas L, Feliciangeli SF, ''et al.'' |title=HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6 endocytic pathway. |journal=Cell |volume=111 |issue= 6 |pages= 853-66 |year= 2003 |pmid= 12526811 |doi=  }}
 
*{{cite journal  | author=Stove V, Naessens E, Stove C, ''et al.'' |title=Signaling but not trafficking function of HIV-1 protein Nef is essential for Nef-induced defects in human intrathymic T-cell development. |journal=Blood |volume=102 |issue= 8 |pages= 2925-32 |year= 2003 |pmid= 12855553 |doi= 10.1182/blood-2003-03-0833 }}
* Widely spaced eyes and low-set ears
*{{cite journal  | author=Hinners I, Wendler F, Fei H, ''et al.'' |title=AP-1 recruitment to VAMP4 is modulated by phosphorylation-dependent binding of PACS-1. |journal=EMBO Rep. |volume=4 |issue= 12 |pages= 1182-9 |year= 2004 |pmid= 14608369 |doi= 10.1038/sj.embor.7400018 }}
* Down-slanting eye corners and mild uni-brow
*{{cite journal | author=Scott GK, Gu F, Crump CM, ''et al.'' |title=The phosphorylation state of an autoregulatory domain controls PACS-1-directed protein traffic. |journal=EMBO J. |volume=22 |issue= 23 |pages= 6234-44 |year= 2004 |pmid= 14633983 |doi= 10.1093/emboj/cdg596 }}
* Highly arched eyebrows and long eyelashes
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
* Rounded “button” nose with a flat bridge
*{{cite journal  | author=Beausoleil SA, Jedrychowski M, Schwartz D, ''et al.'' |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130-5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 }}
* Wide mouth with down-turned corners
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
* Thin upper lip and widely spaced teeth
*{{cite journal  | author=Köttgen M, Benzing T, Simmen T, ''et al.'' |title=Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. |journal=EMBO J. |volume=24 |issue= 4 |pages= 705-16 |year= 2005 |pmid= 15692563 |doi= 10.1038/sj.emboj.7600566 }}
 
}}
Other common traits reported by care givers of affected individuals are:
 
* [[Low muscle tone]]
* [[Seizures]]
* Repetitive [[self-stimulatory behavior]]
* [[Sensory processing disorder]]
* Delayed development of [[gross motor skills]] and [[fine motor skills]]
* Delayed [[cognitive development]]
* Chewing and swallowing difficulties
* Digestion or bowel problems
* Slow growth resulting in below average height and weight
 
=== Prognosis and treatment ===
 
In combination, these traits affect walking, talking, feeding, and learning skills. No impact on life expectancy has been found. As with many developmental disabilities, there is no "cure".
 
In order to improve quality of life and enhance life skills of affected individuals, care givers have found a number of tools and strategies. It is important to note that all of these may not be applicable to a particular individual, and reported effectiveness has varied. It is recommended to consult with a physician prior to initiating any form of treatment.<ref>{{Cite web|url=http://www.pacs1.info/treatment |title=Treatment |website=pacs1.info}}</ref>
 
* [[physiotherapy]] (PT)
* [[occupational therapy]] (OT)
* [[speech therapy]] (including [[augmentative and alternative communication]]) (SPT)
* [[behavioural therapy]] ([[applied behavior analysis]]/intensive behavioural intervention etc.)
* discrete trial teaching
* [[early intervention]] programs
* [[massage therapy]] and [[pediatric massage]]
* [[feeding therapy]]
* [[music therapy]]
* [[hippotherapy]]
* [[hydrotherapy]]
 
== References ==
{{reflist|33em}}
 
== Further reading ==
{{refbegin|33em}}
* {{cite journal | vauthors = Geyer M, Fackler OT, Peterlin BM | title = Structure--function relationships in HIV-1 Nef | journal = EMBO Reports | volume = 2 | issue = 7 | pages = 580–5 | date = Jul 2001 | pmid = 11463741 | pmc = 1083955 | doi = 10.1093/embo-reports/kve141 }}
* {{cite journal | vauthors = Leavitt SA, SchOn A, Klein JC, Manjappara U, Chaiken IM, Freire E | title = Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm | journal = Current Protein & Peptide Science | volume = 5 | issue = 1 | pages = 1–8 | date = Feb 2004 | pmid = 14965316 | doi = 10.2174/1389203043486955 }}
* {{cite journal | vauthors = Joseph AM, Kumar M, Mitra D | title = Nef: "necessary and enforcing factor" in HIV infection | journal = Current HIV Research | volume = 3 | issue = 1 | pages = 87–94 | date = Jan 2005 | pmid = 15638726 | doi = 10.2174/1570162052773013 }}
* {{cite journal | vauthors = Wan L, Molloy SS, Thomas L, Liu G, Xiang Y, Rybak SL, Thomas G | title = PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization | journal = Cell | volume = 94 | issue = 2 | pages = 205–16 | date = Jul 1998 | pmid = 9695949 | doi = 10.1016/S0092-8674(00)81420-8 }}
* {{cite journal | vauthors = Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O | title = Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain | journal = DNA Research | volume = 6 | issue = 5 | pages = 329–36 | date = Oct 1999 | pmid = 10574461 | doi = 10.1093/dnares/6.5.329 }}
* {{cite journal | vauthors = Piguet V, Wan L, Borel C, Mangasarian A, Demaurex N, Thomas G, Trono D | title = HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes | journal = Nature Cell Biology | volume = 2 | issue = 3 | pages = 163–7 | date = Mar 2000 | pmid = 10707087 | pmc = 1475706 | doi = 10.1038/35004038 }}
* {{cite journal | vauthors = Crump CM, Xiang Y, Thomas L, Gu F, Austin C, Tooze SA, Thomas G | title = PACS-1 binding to adaptors is required for acidic cluster motif-mediated protein traffic | journal = The EMBO Journal | volume = 20 | issue = 9 | pages = 2191–201 | date = May 2001 | pmid = 11331585 | pmc = 125242 | doi = 10.1093/emboj/20.9.2191 }}
* {{cite journal | vauthors = Williams M, Roeth JF, Kasper MR, Fleis RI, Przybycin CG, Collins KL | title = Direct binding of human immunodeficiency virus type 1 Nef to the major histocompatibility complex class I (MHC-I) cytoplasmic tail disrupts MHC-I trafficking | journal = Journal of Virology | volume = 76 | issue = 23 | pages = 12173–84 | date = Dec 2002 | pmid = 12414957 | pmc = 136906 | doi = 10.1128/JVI.76.23.12173-12184.2002 }}
* {{cite journal | vauthors = Blagoveshchenskaya AD, Thomas L, Feliciangeli SF, Hung CH, Thomas G | title = HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6 endocytic pathway | journal = Cell | volume = 111 | issue = 6 | pages = 853–66 | date = Dec 2002 | pmid = 12526811 | doi = 10.1016/S0092-8674(02)01162-5 }}
* {{cite journal | vauthors = Scott GK, Gu F, Crump CM, Thomas L, Wan L, Xiang Y, Thomas G | title = The phosphorylation state of an autoregulatory domain controls PACS-1-directed protein traffic | journal = The EMBO Journal | volume = 22 | issue = 23 | pages = 6234–44 | date = Dec 2003 | pmid = 14633983 | pmc = 291837 | doi = 10.1093/emboj/cdg596 }}
* {{cite journal | vauthors = Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 33 | pages = 12130–5 | date = Aug 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 }}
* {{cite journal | vauthors = Köttgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli S, Huber TB, Schermer B, Kramer-Zucker A, Höpker K, Simmen KC, Tschucke CC, Sandford R, Kim E, Thomas G, Walz G | title = Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation | journal = The EMBO Journal | volume = 24 | issue = 4 | pages = 705–16 | date = Feb 2005 | pmid = 15692563 | pmc = 549624 | doi = 10.1038/sj.emboj.7600566 }}
{{refend}}
{{refend}}


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Revision as of 17:28, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Phosphofurin acidic cluster sorting protein 1 also known as PACS-1 is a protein that in humans is encoded by the PACS1 gene.[1][2][3]

Function

The PACS-1 protein has a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance.[3]

Interactions

PACS1 has been shown to interact with Furin.[4]

Clinical significance

A de novo mutation c.607C>T in the PACS1 gene has been shown to result in a syndromic phenotype (colloquially called PACS1 Syndrome) that is characterized by global developmental delay, intellectual disability, and specific facial features.[5][6]

Prevalence and diagnosis

The first two cases were identified in early 2011 by doctors in the Netherlands.[5] As of late 2014, there were 20 cases identified worldwide.[7]

Diagnosis is typically done using full genome or exome sequencing.[8] Both methods are relatively expensive and not widely available. There are likely several more cases that will eventually be reported as knowledge of the mutation spreads and testing becomes more accessible.

Observed and reported traits

Individuals with the mutation have been reported to have similar facial features, such as:

  • Widely spaced eyes and low-set ears
  • Down-slanting eye corners and mild uni-brow
  • Highly arched eyebrows and long eyelashes
  • Rounded “button” nose with a flat bridge
  • Wide mouth with down-turned corners
  • Thin upper lip and widely spaced teeth

Other common traits reported by care givers of affected individuals are:

Prognosis and treatment

In combination, these traits affect walking, talking, feeding, and learning skills. No impact on life expectancy has been found. As with many developmental disabilities, there is no "cure".

In order to improve quality of life and enhance life skills of affected individuals, care givers have found a number of tools and strategies. It is important to note that all of these may not be applicable to a particular individual, and reported effectiveness has varied. It is recommended to consult with a physician prior to initiating any form of treatment.[9]

References

  1. ↑ Stove V, Naessens E, Stove C, Swigut T, Plum J, Verhasselt B (Oct 2003). "Signaling but not trafficking function of HIV-1 protein Nef is essential for Nef-induced defects in human intrathymic T-cell development". Blood. 102 (8): 2925–32. doi:10.1182/blood-2003-03-0833. PMID 12855553.
  2. ↑ Hinners I, Wendler F, Fei H, Thomas L, Thomas G, Tooze SA (Dec 2003). "AP-1 recruitment to VAMP4 is modulated by phosphorylation-dependent binding of PACS-1". EMBO Reports. 4 (12): 1182–9. doi:10.1038/sj.embor.7400018. PMC 1326413. PMID 14608369.
  3. ↑ 3.0 3.1 "Entrez Gene: PACS1 phosphofurin acidic cluster sorting protein 1".
  4. ↑ Wan L, Molloy SS, Thomas L, Liu G, Xiang Y, Rybak SL, Thomas G (Jul 1998). "PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization". Cell. 94 (2): 205–16. doi:10.1016/S0092-8674(00)81420-8. PMID 9695949.
  5. ↑ 5.0 5.1 Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG (2012). "Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome". Am. J. Hum. Genet. 91 (6): 1122–7. doi:10.1016/j.ajhg.2012.10.013. PMC 3516611. PMID 23159249.
  6. ↑ Online Mendelian Inheritance in Man (OMIM) 615009
  7. ↑ http://www.pacs1.info/about/
  8. ↑ Callaway E (2012). "Gene hunt is on for mental disability". Nature. 484 (7394): 302–3. doi:10.1038/484302a. PMID 22517145.
  9. ↑ "Treatment". pacs1.info.

Further reading


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