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A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family
- Source :
- Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 525:61-65
- Publication Year :
- 2003
- Publisher :
- Elsevier BV, 2003.
-
Abstract
- Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in disproportionally short-trunked short stature, barrel-shaped chest, and dysplasia of the large joints. It is caused by the mutations of SEDL gene. The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function of the gene could be predicted. However, this mutation has not been detected in 50 age and sex matched unrelated controls.
- Subjects :
- Adult
Male
Spondyloepiphyseal dysplasia
China
Health, Toxicology and Mutagenesis
DNA Mutational Analysis
Single-nucleotide polymorphism
Biology
Osteochondrodysplasias
medicine.disease_cause
Polymerase Chain Reaction
Frameshift mutation
Exon
Asian People
Genetics
medicine
Humans
Molecular Biology
Gene
Polymorphism, Single-Stranded Conformational
Sequence Deletion
Mutation
Nucleotides
Genetic Carrier Screening
Membrane Transport Proteins
Genetic Diseases, X-Linked
Single-strand conformation polymorphism
Exons
medicine.disease
Molecular biology
Pedigree
Dysplasia
Female
Carrier Proteins
Transcription Factors
Subjects
Details
- ISSN :
- 00275107
- Volume :
- 525
- Database :
- OpenAIRE
- Journal :
- Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
- Accession number :
- edsair.doi.dedup.....8d52a451795cec3423dbc2a0f296a706