@article{ref1,
title="Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation",
journal="American journal of medical genetics. Part A",
year="2008",
author="Hsieh, Elena W. Y. and Vargervik, Karin and Slavotinek, Anne M.",
volume="146A",
number="18",
pages="2337-2345",
abstract="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.<p />",
language="",
issn="1552-4825",
doi="10.1002/ajmg.a.32368",
url="http://dx.doi.org/10.1002/ajmg.a.32368"
}