Document Detail


Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
MedLine Citation:
PMID:  18697196     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Elena W Y Hsieh; Karin Vargervik; Anne M Slavotinek
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-09-01     Completed Date:  2008-09-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2337-45     Citation Subset:  IM    
Copyright Information:
Copyright 2008 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics, Division of Genetics, UCSF School of Medicine, San Francisco, California 94143-0748, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Base Sequence
Child
Child, Preschool
Cleft Lip / genetics*
Cleft Palate / genetics*
Codon, Nonsense / genetics
DNA Mutational Analysis
Female
Genotype
Humans
Hypertelorism / genetics*
Hypospadias / genetics*
Infant
Male
Microtubule Proteins / genetics*
Nuclear Proteins / genetics*
Oligonucleotide Array Sequence Analysis
Phenotype
Syndrome
Transcription Factors / genetics*
Chemical
Reg. No./Substance:
0/Codon, Nonsense; 0/Microtubule Proteins; 0/Mid1 protein, human; 0/Nuclear Proteins; 0/Transcription Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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