[TBX5 mutation in Chinese patients with Holt-Oram syndrome].
OBJECTIVE
To analyse TBX5 mutation in Chinese patients with Holt-Oram syndrome(HOS).


METHODS
Seven HOS families were analysed with single strand conformation polymorphism(SSCP) and sequencing.


RESULTS
Three SSCP changes were detected and identified as the TBX5 gene mutation at three new sites. One of the changes is a frameshift mutation caused by a base cytidine deletion at the cDNA sequence of 416, which altered all the codons after the point, thus it can not encode the protein of normal amino acid sequence; another is a missense mutation induced by a base substitution(C-->A) at the cDNA sequence of 145, which made the codon of that point change from CAG-->AAG, and encoded amino acid changed from glutamine(Gln) to lysine(Lys), consequently the change weakened the function of TBX5 protein; the third is also a missense mutation which resulted from a base substitution (T-->C) at the cDNA sequence of 161, this change made the codon of that point change from ATC-->ACC, it changed the encoded amino acid from isoleucine(Ile) to threonine(Thr), which reduced the function of TBX5 protein.


CONCLUSIONS
HOS in Chinese is caused by mutation in TBX5.
Yang
J
J
Department of Cardiothoracic Surgery, the Second Affiliated Hospital, Hunan Medical University, Changsha, Hunan, P. R. China. markzhou@public.cs.hn.cn
Hu
D
D
Xia
J
J
Yang
Y
Y
Yin
B
B
Hu
J
J
Zhou
X
X
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D020825:T-Box Domain Proteins / Q000235:genetics*
D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5