22q11.2 deletion syndrome historical perspective

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Differentiating 22q11.2 deletion syndrome from other Diseases

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayushi Jain, M.B.B.S[2]

Overview

Historical Perspective

Discovery

DGS characteristics were first described in 1828 but adequately reported later in 1965 by Dr. Angelo DiGeorge, as a clinical trial that included immunodeficiency, hypoparathyroidism, and congenital heart disease.[1]

  • Harrington [2] first noted the association between thymic aplasia and DiGeorge syndrome in 1829 and later Lobdell[3] noted its association with congenital hypoparathyroidism in 1959.
  • DiGeorge had evaluated 29 patients by 1979 and the next important publication on DGS was that of Conley et al[4] on the which described the spectrum of DGS. Conley's series also noted both the association of DGS with CHARGE association and of DGS and holoprosencephaly/arhinencephaly.
  • Conley et al[4] pointed out the association of DGS with conotruncal cardiac defects in 1979.
  • In terms of pathogenesis and aetiology, Lammer and Opitz[5] reviewed various mechanisms in 1986. DGA can occur because of various chromosome abnormalities like mendelian disorders (including velocardiofacial syndrome (VCFS) and Zellweger syndrome), teratogenic exposure (alcohol, maternal diabetes, retinoids), and other associations (CHARGE associations and with Kallmann syndrome or with holoprosencephaly) (the latter two may be a spectrum of the same defect).
  • Historically, DGS was grouped within a sphere of other syndromes such as Shprintzen-Goldberg syndrome, velocardiofacial syndrome, Cayler cardiofacial syndrome, Sedlackova syndrome, conotruncal anomaly face syndrome, and DGS, collectively called 22q11 deletion syndromes. They have the same genetic etiology but their varying phenotypes has has led to confusion in diagnosing patients with DGS, which causes potentially catastrophic delays in diagnosis.[6]

Landmark Events in the Development of Treatment Strategies

There have been no landmark events witnessed in the treatment strategy for DGS.

Impact on Cultural History

Famous Cases

The following are a few famous cases of [disease name]:

References

  1. McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.
  2. Harrington LH. Absence of the thymus gland. Lond Med Gaz 1929;3:314.
  3. Lobdell DH. Congenital absence of the parathyroid glands. Arch Pathol 1959;67:412-18.
  4. 4.0 4.1 Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L. The spectrum of the DiGeorge syndrome. J7 Pediatr 1979;94:883-90.
  5. Lammer EJ, Opitz JM. The DiGeorge anomaly as a developmental field defect. Am J7 Med Genet Suppl 1986;2:1 13-27.
  6. Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM. DiGeorge Syndrome: a not so rare disease. Clinics (Sao Paulo). 2010;65(9):865-9.



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