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Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism
Author(s) -
Comstock Jessica M.,
Putnam Angelica R.,
Sangle Nikhil,
Lowichik Amy,
Rose Nancy C.,
Opitz John M.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33463
Subject(s) - germline mosaicism , germline , loss of heterozygosity , germline mutation , genetics , somatic cell , biology , mutation , exon , gene , allele
Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene ( COL2A1 ). Familial cases have been reported, suggesting both germline and somatic mosaicism. We report on two pregnancies from the same couple with gross, radiologic, and microscopic findings of ACG2. Molecular analysis of the second infant demonstrated heterozygosity for a c.2303G > A transition (p.Gly768Asp) in exon 33 of the COL2A1 gene. Although this mutation could not be proven by molecular studies in the first infant, identical findings in two affected pregnancies support germline mosaicism as the cause of ACG2 in this family. © 2010 Wiley‐Liss, Inc.