Familial hypocalciuric hypercalcemia classification: Difference between revisions
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==Classification== | ==Classification== | ||
FHH is an [[Autosomal dominant|autosomal dominan]]<nowiki/>t benign inherited condition caused by three types of mutations the most common mutation is an inactivating [[missense mutation]] of the CASR located on chromosome 3q, Very rarely is caused by the mutation of GNA11 gene and AP2S1 gene. | FHH is an [[Autosomal dominant|autosomal dominan]]<nowiki/>t benign inherited condition caused by three types of mutations the most common mutation is an inactivating [[missense mutation]] of the CASR located on chromosome 3q, Very rarely is caused by the mutation of GNA11 gene and AP2S1 gene.<ref name="pmid25104082">{{cite journal |vauthors=Stratta P, Merlotti G, Musetti C, Quaglia M, Pagani A, Izzo C, Radin E, Airoldi A, Baorda F, Palladino T, Leone MP, Guarnieri V |title=Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population |journal=Nephrol. Dial. Transplant. |volume=29 |issue=10 |pages=1902–9 |year=2014 |pmid=25104082 |doi=10.1093/ndt/gfu065 |url=}}</ref><ref name="pmid26963950">{{cite journal |vauthors=Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P |title=Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences |journal=J. Clin. Endocrinol. Metab. |volume=101 |issue=5 |pages=2185–95 |year=2016 |pmid=26963950 |doi=10.1210/jc.2015-3442 |url=}}</ref> | ||
* Type-1: caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), a [[G protein-coupled receptor|G-protein coupled receptor]] that predominantly signals via [[G-protein]] subunit alpha-11 (Gα11) to regulate [[calcium homeostasis]] located on chromosome 3q13.3-q21.<ref name="pmid26729423">{{cite journal |vauthors=Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV |title=A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) |journal=J. Bone Miner. Res. |volume=31 |issue=6 |pages=1200–6 |year=2016 |pmid=26729423 |pmc=4949650 |doi=10.1002/jbmr.2778 |url=}}</ref><ref name="pmid23802516">{{cite journal |vauthors=Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H, Thakker RV |title=Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia |journal=N. Engl. J. Med. |volume=368 |issue=26 |pages=2476–2486 |year=2013 |pmid=23802516 |pmc=3773604 |doi=10.1056/NEJMoa1300253 |url=}}</ref> | |||
There are three types of FHH: | There are three types of FHH: | ||
* Type-2: caused by heterozygous mutation in the GNA11 gene on chromosome 19p13.<ref name="pmid28176280">{{cite journal |vauthors=Szalat A, Shpitzen S, Tsur A, Zalmon Koren I, Shilo S, Tripto-Shkolnik L, Durst R, Leitersdorf E, Meiner V |title=Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia |journal=Endocrine |volume=55 |issue=3 |pages=741–747 |year=2017 |pmid=28176280 |doi=10.1007/s12020-017-1241-5 |url=}}</ref> | * Type-2: caused by heterozygous mutation in the GNA11 gene on chromosome 19p13.<ref name="pmid28176280">{{cite journal |vauthors=Szalat A, Shpitzen S, Tsur A, Zalmon Koren I, Shilo S, Tripto-Shkolnik L, Durst R, Leitersdorf E, Meiner V |title=Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia |journal=Endocrine |volume=55 |issue=3 |pages=741–747 |year=2017 |pmid=28176280 |doi=10.1007/s12020-017-1241-5 |url=}}</ref> | ||
* Type-3: caused by heterozygous mutation in the AP2S1 gene on chromosome 19q13.<ref name="pmid24731014">{{cite journal |vauthors=Hendy GN, Canaff L, Newfield RS, Tripto-Shkolnik L, Wong BY, Lee BS, Cole DE |title=Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations |journal=J. Clin. Endocrinol. Metab. |volume=99 |issue=7 |pages=E1311–5 |year=2014 |pmid=24731014 |doi=10.1210/jc.2014-1120 |url=}}</ref><ref name="pmid26646938">{{cite journal |vauthors=Mayr B, Schnabel D, Dörr HG, Schöfl C |title=GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts |journal=Eur. J. Endocrinol. |volume=174 |issue=5 |pages=R189–208 |year=2016 |pmid=26646938 |doi=10.1530/EJE-15-1028 |url=}}</ref> | * Type-3: caused by heterozygous mutation in the AP2S1 gene on chromosome 19q13.<ref name="pmid24731014">{{cite journal |vauthors=Hendy GN, Canaff L, Newfield RS, Tripto-Shkolnik L, Wong BY, Lee BS, Cole DE |title=Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations |journal=J. Clin. Endocrinol. Metab. |volume=99 |issue=7 |pages=E1311–5 |year=2014 |pmid=24731014 |doi=10.1210/jc.2014-1120 |url=}}</ref><ref name="pmid26646938">{{cite journal |vauthors=Mayr B, Schnabel D, Dörr HG, Schöfl C |title=GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts |journal=Eur. J. Endocrinol. |volume=174 |issue=5 |pages=R189–208 |year=2016 |pmid=26646938 |doi=10.1530/EJE-15-1028 |url=}}</ref> | ||
Revision as of 13:46, 28 September 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ajay Gade MD[2]]
Overview
Familial hypocalciuric hypercalcemia is classified into three types. Type-1 is due to loss-of-functional mutations of the calcium-sensing receptor, type-2 is caused by the mutation of GNA 11 gene, type-3 is associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which alter the endocytosis of calcium-sensing receptor.
Classification
FHH is an autosomal dominant benign inherited condition caused by three types of mutations the most common mutation is an inactivating missense mutation of the CASR located on chromosome 3q, Very rarely is caused by the mutation of GNA11 gene and AP2S1 gene.[1][2]
- Type-1: caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), a G-protein coupled receptor that predominantly signals via G-protein subunit alpha-11 (Gα11) to regulate calcium homeostasis located on chromosome 3q13.3-q21.[3][4]
There are three types of FHH:
- Type-2: caused by heterozygous mutation in the GNA11 gene on chromosome 19p13.[5]
- Type-3: caused by heterozygous mutation in the AP2S1 gene on chromosome 19q13.[6][7]
| Familial Hypocalciuric Hypercalcemia | |||||||||||||||||||||||||||||||||||||||||
| Type 1 FHH | Type 2 FHH | Type 3 FHH | |||||||||||||||||||||||||||||||||||||||
| Mutations of the calcium-sensing receptor | Mutation in the GNA11 gene | Mutation in the AP2S1 gene | |||||||||||||||||||||||||||||||||||||||
References
- ↑ Stratta P, Merlotti G, Musetti C, Quaglia M, Pagani A, Izzo C, Radin E, Airoldi A, Baorda F, Palladino T, Leone MP, Guarnieri V (2014). "Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population". Nephrol. Dial. Transplant. 29 (10): 1902–9. doi:10.1093/ndt/gfu065. PMID 25104082.
- ↑ Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P (2016). "Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences". J. Clin. Endocrinol. Metab. 101 (5): 2185–95. doi:10.1210/jc.2015-3442. PMID 26963950.
- ↑ Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV (2016). "A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)". J. Bone Miner. Res. 31 (6): 1200–6. doi:10.1002/jbmr.2778. PMC 4949650. PMID 26729423.
- ↑ Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H, Thakker RV (2013). "Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia". N. Engl. J. Med. 368 (26): 2476–2486. doi:10.1056/NEJMoa1300253. PMC 3773604. PMID 23802516.
- ↑ Szalat A, Shpitzen S, Tsur A, Zalmon Koren I, Shilo S, Tripto-Shkolnik L, Durst R, Leitersdorf E, Meiner V (2017). "Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia". Endocrine. 55 (3): 741–747. doi:10.1007/s12020-017-1241-5. PMID 28176280.
- ↑ Hendy GN, Canaff L, Newfield RS, Tripto-Shkolnik L, Wong BY, Lee BS, Cole DE (2014). "Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations". J. Clin. Endocrinol. Metab. 99 (7): E1311–5. doi:10.1210/jc.2014-1120. PMID 24731014.
- ↑ Mayr B, Schnabel D, Dörr HG, Schöfl C (2016). "GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts". Eur. J. Endocrinol. 174 (5): R189–208. doi:10.1530/EJE-15-1028. PMID 26646938.