Abstract
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)
is a transcription corepressor of Smad target genes with functions in the patterning
of neural crest derived cells, CNS, and midline structures. Mutations in ZFHX1 B can lead to neurological disorders in addition to dysmorphic features, megacolon,
and other malformations.
Key words
ZFHX1 B mutation - corpus callosum agenesis - microcephaly - mental retardation - Hirschsprung
disease
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Dr. L. Sztriha
Department of Paediatrics
FMHS
UAE University
Al Ain
POB 17666
United Arab Emirates
Email: sztriha@uaeu.ac.ae