| Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. | |
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MedLine Citation:
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PMID: 18697196 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Elena W Y Hsieh; Karin Vargervik; Anne M Slavotinek |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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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:
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Created Date: 2008-09-01 Completed Date: 2008-09-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2337-45 Citation Subset: IM |
Copyright Information:
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Copyright 2008 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, Division of Genetics, UCSF School of Medicine, San Francisco, California 94143-0748, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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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:
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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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