Document Detail

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
MedLine Citation:
PMID:  17847009     Owner:  NLM     Status:  MEDLINE    
The C syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. In an individual with the C syndrome who harbors a balanced chromosomal translocation, t(3;18)(q13.13;q12.1), we discovered that the TACTILE gene for CD96, a member of the immunoglobulin superfamily, was disrupted at the 3q13.3 breakpoint. In mutation analysis of nine karyotypically normal patients given diagnoses of the C or C-like syndrome, we identified a missense mutation (839C-->T, T280M) in exon 6 of the CD96 gene in one patient with the C-like syndrome. The missense mutation was not found among 420 unaffected Japanese individuals. Cells with mutated CD96 protein (T280M) lost adhesion and growth activities in vitro. These findings indicate that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth.
Tadashi Kaname; Kumiko Yanagi; Yasutsugu Chinen; Yoshio Makita; Nobuhiko Okamoto; Hiroki Maehara; Ichiro Owan; Fuminori Kanaya; Yoshiaki Kubota; Yuichi Oike; Toshiyuki Yamamoto; Kenji Kurosawa; Yoshimitsu Fukushima; Axel Bohring; John M Opitz; Ko-Ichiro Yoshiura; Norio Niikawa; Kenji Naritomi
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-08-27
Journal Detail:
Title:  American journal of human genetics     Volume:  81     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-09-11     Completed Date:  2007-10-30     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  835-41     Citation Subset:  IM    
Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Nishihara, Okinawa, Japan.
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MeSH Terms
Abnormalities, Multiple / genetics*,  immunology*
Antigens, CD / genetics*
Base Sequence
Cell Adhesion / genetics
Chromosomes, Human, Pair 3 / genetics
Craniofacial Abnormalities / genetics*,  immunology*
DNA Primers / genetics
Gene Expression
In Situ Hybridization, Fluorescence
Mutation, Missense
Translocation, Genetic
Reg. No./Substance:
0/Antigens, CD; 0/CD96 antigen; 0/DNA Primers

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