A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.
We report a new nonsense mutation in the human sedlin (SEDL) gene in a family with X-linked spondyloepiphyseal dysplasia tarda. A substitution of cytosine for adenine at nucleotide position 329 causing a nonsense mutation (S110X) in exon 6 was identified in the affected patient in the family.
Shi
Yi-Ru
YR
Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
Lee
Cheng-Chun
CC
Hsu
Yu-An
YA
Wang
Chung-Hsing
CH
Tsai
Fuu-Jen
FJ
D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D010009:Osteochondrodysplasias / Q000235:genetics*; D014157:Transcription Factors
D002352:Carrier Proteins; D018389:Codon, Nonsense; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors