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Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation
Author(s) -
Hsieh Elena W.Y.,
Vargervik Karin,
Slavotinek Anne M.
Publication year - 2008
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.32368
Subject(s) - hypertelorism , hypospadias , exon , mutation , genetics , phenotype , medicine , gene , biology
Opitz G/BBB syndrome is characterized by midline abnormalities such as hypertelorism, cleft palate, and hypospadias. This syndrome is heterogeneous with an X‐linked recessive form caused by mutations in the MID1 gene at band Xp22.3. However, mutations in MID1 have only been identified in 47% of familial cases of X‐linked Opitz G/BBB syndrome, and 13% of sporadic cases. We performed a phenotype–genotype analysis of a group of nine new patients with clinical characteristics commonly seen in Opitz G/BBB syndrome, and of previously reported patients. We identified a novel mutation in exon 9 of the MID1 gene, c.1941insTGAGTCATCATCC, leading to a premature termination codon at amino acid 514 in a patient with hypertelorism, apparently low‐set ears, a short philtrum, bilateral cleft of lip and palate and hypospadias. This mutation affects the PRY domain of the C‐terminus of the MID1 protein. © 2008 Wiley‐Liss, Inc.