| A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. | |
| | |
MedLine Citation:
|
PMID: 19638688 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused by GJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation c.C31A resulting in p.L11F substitution. Our report provides evidence on the importance of this highly conserved amino acid residue for the proper functioning of GJA1 protein. |
| | |
Authors:
|
A Jamsheer; M Wisniewska; A Szpak; G Bugaj; M R Krawczynski; B Budny; A Wawrocka; A Latos-Bieleńska |
Related Documents
:
|
12651868 - Defective secretion of recombinant fragments of fibrillin-1: implications of protein mi... 21051998 - Comparison of phox2b testing methods in the diagnosis of congenital central hypoventila... 11484208 - Novel snp at the common primer site of exon iiia of fgfr2 gene causes error in molecula... 17264868 - Large genomic rearrangements in nipbl are infrequent in cornelia de lange syndrome. 20551628 - Evaluation of five interleukin genes for association with end-stage renal disease in wh... 20538168 - Polymorphisms in the nos1ap gene modulate qt interval duration and risk of arrhythmias ... |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Journal of applied genetics Volume: 50 ISSN: 1234-1983 ISO Abbreviation: J. Appl. Genet. Publication Date: 2009 |
Date Detail:
|
Created Date: 2009-07-29 Completed Date: 2009-11-02 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9514582 Medline TA: J Appl Genet Country: Poland |
Other Details:
|
Languages: eng Pagination: 297-9 Citation Subset: IM |
Affiliation:
|
Chair and Department of Medical Genetics, Poland. jamsheer@wp.pl |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Child, Preschool Connexin 43 / genetics* Eye Abnormalities / genetics* Female Humans Mutation, Missense* Syndactyly / genetics* Syndrome Tooth Abnormalities / genetics* |
| Chemical | |
Reg. No./Substance:
|
0/Connexin 43; 0/GJA1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature.
Next Document: Genome-wide identification of genes involved in tolerance to various environmental stresses in Sacch...