Neuropediatrics 2003; 34(6): 322-325
DOI: 10.1055/s-2003-44671
Short Communication

Georg Thieme Verlag Stuttgart · New York

Frameshift Mutation of the Zinc Finger Homeo Box 1 B Gene in Syndromic Corpus Callosum Agenesis (Mowat-Wilson Syndrome)

L. Sztriha 1 , Y. Espinosa-Parrilla 2 , A. Gururaj 1 , J. Amiel 2 , S. Lyonnet 2 , S. Gerami 3 , J. G. Johansen 4
  • 1Department of Paediatrics, FMHS, UAE University, Al Ain, United Arab Emirates
  • 2Département de Génétique, et Unité INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France
  • 3Department of Paediatric Surgery, Al Ain Hospital, Al Ain, United Arab Emirates
  • 4Department of Radiology, FMHS, UAE University, Al Ain, United Arab Emirates
Further Information

Publication History

Received: January 29, 2003

Accepted after Revision: September 22, 2003

Publication Date:
18 December 2003 (online)

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.

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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

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