title: Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism.
abstract: 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.
authors.affiliation: Division of Pediatric Pathology, Department of Pathology, University of Utah, Utah, USA. jessica.comstock@imail.org
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Comstock
authors.forename: Angelica R
authors.initials: AR
authors.lastname: Putnam
authors.forename: Nikhil
authors.initials: N
authors.lastname: Sangle
authors.forename: Amy
authors.initials: A
authors.lastname: Lowichik
authors.forename: Nancy C
authors.initials: NC
authors.lastname: Rose
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D020219:Chondrogenesis; D005260:Female; D005333:Fetus / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000473:pathology; D009030:Mosaicism; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D011247:Pregnancy; D011859:Radiography; D012008:Recurrence; D035781:Siblings