| A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia. | |
| | |
MedLine Citation:
|
PMID: 18688569 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Isolated hypodontia, or congenital absence of one to six permanent teeth (OMIM 300606), is a common condition that affects about 20% of individuals worldwide. We identified two extended Pakistani pedigrees segregating X-linked hypodontia with variable expressivity. Affected males show no other associated anomalies, and obligate carrier females have normal dentition. We analyzed the families with polymorphic markers in the ectodysplasin A (EDA) gene region and obtained significant linkage to the phenotype in each pedigree (Z(max) 3.29 and 2.65, respectively, at theta = 0.00). Sequence analysis of the coding regions of EDA revealed a novel missense mutation c.1091T>C resulting in a methionine to threonine substitution (p.M364T) in the tumor necrosis factor (TNF) homology domain. Met364 is a highly conserved residue located on the outer surface of the EDA protein. From our findings, we suggest that the mutation disturbs but does not destroy the EDA structure, resulting in the partial and unusually mild ED phenotype restricted to hypodontia. |
| | |
Authors:
|
Mahmood Rasool; Jens Schuster; Muhammad Aslam; Muhammad Tariq; Ilyas Ahmad; Amjad Ali; Miriam Entesarian; Niklas Dahl; Shahid Mahmood Baig |
Related Documents
:
|
2875939 - Linkage analyses of multiple endocrine neoplasia, type 2a (men-2a) with 20 dna polymorp... 16838359 - Analysis of the dopamine beta hydroxylase gene in gilles de la tourette syndrome. 8666389 - A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps t... 18685559 - Variation near complement factor i is associated with risk of advanced amd. 6881909 - Genetic linkage between the loci for myotonic dystrophy and peptidase d. 12372939 - Familial juvenile gouty nephropathy: exclusion of 16p12 from the candidate locus. 2419569 - Rna polymerase mutant able to express in vivo and in vitro the lactose operon in the ab... 11246459 - Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkin... 1362179 - Class i gene contraction within the hla-a subregion of the human mhc. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2008-08-09 |
Journal Detail:
|
Title: Journal of human genetics Volume: 53 ISSN: 1434-5161 ISO Abbreviation: J. Hum. Genet. Publication Date: 2008 |
Date Detail:
|
Created Date: 2008-09-25 Completed Date: 2008-11-18 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9808008 Medline TA: J Hum Genet Country: Japan |
Other Details:
|
Languages: eng Pagination: 894-8 Citation Subset: IM |
Affiliation:
|
Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Amino Acid Sequence Amino Acid Substitution Anodontia / genetics* Chromosomes, Human, X / genetics* Ectodysplasins / chemistry, genetics* Female Genes, Recessive* Humans Male Models, Molecular Molecular Sequence Data Mutation, Missense / genetics* Pedigree Phenotype Protein Folding Recombination, Genetic Sequence Homology, Amino Acid |
| Chemical | |
Reg. No./Substance:
|
0/EDA protein, human; 0/Ectodysplasins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Analysis of segregation patterns in Machado-Joseph disease pedigrees.
Next Document: Focal segmental glomerulosclerosis complicating solitary kidney.