Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda.
- Author:
Juan LI
1
;
Xiaojing CHAI
;
Li LU
;
Jiang ZHU
;
Xiaoyun DU
;
Li ZHAO
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Child; China; DNA Mutational Analysis; Exons; genetics; Family Health; Female; Frameshift Mutation; Genetic Diseases, X-Linked; genetics; Genetic Predisposition to Disease; genetics; Humans; Male; Membrane Transport Proteins; genetics; Osteochondrodysplasias; genetics; Pedigree; Sequence Deletion; Transcription Factors; genetics
- From: Chinese Journal of Medical Genetics 2014;31(5):604-607
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the molecular mechanism for a family with hereditary X-linked spondyloepiphysealdysplasia tarda (SEDT).
METHODSFor 3 affected males and 2 obligate carrier females from the family, exons 3 to 6 of SEDL gene were amplified with PCR and sequenced.
RESULTSIn the three patients, a deletional mutation (c.267_271delAAGAC) in exon 5 has been identified, which has caused frameshift of the protein product.
CONCLUSIONc.267_271delAAGAC frameshift mutation of the exon 5 of the SEDL gene probably underlies the disease in this family.
