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

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.

• Authors: L Sztriha, Y Espinosa-Parrilla, A Gururaj, J Amiel, S Lyonnet, S Gerami, J G Johansen
• Journal: Neuropediatrics (Neuropediatrics) Vol. 34 Issue 6 Pg. 322-5 (Dec 2003) ISSN: 0174-304X [Print] Germany
• PMID: 14681759 (Publication Type: Case Reports, Journal Article)

Chemical References

• Homeodomain Proteins
• Repressor Proteins
• ZEB2 protein, human
• Zinc Finger E-box Binding Homeobox 2

Topics

• Abnormalities, Multiple (genetics)
• Agenesis of Corpus Callosum
• Female
• Frameshift Mutation
• Hirschsprung Disease (genetics)
• Homeodomain Proteins (genetics)
• Humans
• Infant
• Infant, Newborn
• Intellectual Disability (genetics)
• Microcephaly (genetics)
• Repressor Proteins (genetics)
• Syndrome
• Zinc Finger E-box Binding Homeobox 2