Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

@article{Sztriha2003FrameshiftMO,
  title={Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).},
  author={L{\'a}szl{\'o} Sztriha and Yolanda Espinosa-Parrilla and A. David Maxim Gururaj and Jeanne Amiel and Stanislas Lyonnet and Shiva Gerami and Johan G Johansen},
  journal={Neuropediatrics},
  year={2003},
  volume={34 6},
  pages={322-5}
}
We report a girl who had Hirschsprung disease in association with distinct facial appearance, microcephaly, agenesis of the corpus callosum and mental retardation (Mowat-Wilson syndrome). Mutation analysis of the zinc finger homeo box 1 B (ZFHX1 B) gene revealed a de novo 7 bp deletion (TGGCCCC) at nucleotide 1773 (1773 delTGGCCCC) resulting in a frameshift and leading to a termination codon at amino acid residue 604 (604 X) in exon 8 C. The zinc finger homeo box 1 B (Smad interacting protein-1… CONTINUE READING

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