Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

@article{Wang2014ExomeSR,
  title={Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation},
  author={Xue Wang and Q. C. Xin and Lin Li and Jiangxia Li and Changwu Zhang and Rongfang Qiu and Chenmin Qian and Hailing Zhao and Yongchao Liu and Shan Shan and Jie Ming Dang and Xianli Bian and Changshun Shao and Yaoqin Gong and Qiji Liu},
  journal={European Journal of Human Genetics},
  year={2014},
  volume={22},
  pages={1105-1110}
}
Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median clefts between toes, ectrodactyly and syndactyly; the mother also showed triphalangeal thumbs. Exome sequencing and variant screening of… CONTINUE READING
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