title: A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family.
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.
authors.affiliation: Department of Medical Genetics, West China Hospital, Sichuan University and Key Laboratory of Morbid Genomics and Forensic Medicine of Sichuan Province, Chengdu 610041, PR China.
authors.forename: Cuiying
authors.initials: C
authors.lastname: Xiao
authors.forename: Sizhong
authors.initials: S
authors.lastname: Zhang
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: Weimin
authors.initials: W
authors.lastname: Qiu
authors.forename: Leiting
authors.initials: L
authors.lastname: Chi
authors.forename: Yunqing
authors.initials: Y
authors.lastname: Li
authors.forename: Zhiguang
authors.initials: Z
authors.lastname: Su
mesh_terms: D000328:Adult; D044466:Asian People; D002352:Carrier Proteins / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D040181:Genetic Diseases, X-Linked; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D009711:Nucleotides / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D014157:Transcription Factors
chemical_list: D002352:Carrier Proteins; D026901:Membrane Transport Proteins; D009711:Nucleotides; C120759:TRAPPC2 protein, human; D014157:Transcription Factors