LETTER TO JMG

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

C Zweier¹, I K Temple², F Beemer³, E Zackai⁴, T Lerman-Sagie⁵, B Weschke⁶, C E Anderson⁷, A Rauch¹

¹ Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nuremberg, Erlangen, Germany
² Wessex Clinical Genetics Service, Southampton University NHS Hospital Trust, Southampton, UK
³ Department of Biomedical Genetics, University Medical Centre Utrecht, The Netherlands
⁴ Clinical Genetics Center of The Children’s Hospital of Philadelphia, USA
⁵ Metabolic Neurogenetic Clinic, E Wolfson Medical Centre, Holon, Israel
⁶ Department of Paediatric Neurology, Charité Campus Virchow-Klinikum, Humboldt University, Berlin, Germany
⁷ SCHC Pediatrics, Philadelphia, USA

Correspondence to:
Correspondence to:
Dr A Rauch, Institut für Humangenetik, Schwabachanlage 10, 91054 Erlangen, Germany;
arauch@humgenet.uni-erlangen.de

Keywords: Mowat-Wilson syndrome; SIP1; ZFHX1B; syndromic Hirschsprung disease

The first 150 words of the full text of this article appear below.

In 1998, Mowat et al¹ delineated a syndrome with Hirschsprung disease (HSCR) or severe constipation, microcephaly, mental retardation, and a distinctive facial appearance.¹ Because two of the patients had a cytogenetically visible deletion of 2q22-q23,^1,2 and all patients were sporadic cases, a contiguous gene syndrome or a dominant single gene disorder involving this locus were suggested.¹ Two similar patients with cytogenetically balanced translocation t(2;13)(q22;q22) and t(2;11)(q22.2;q21), respectively, allowed Wakamatsu et al³ and Cacheux et al⁴ to narrow down the critical interval to 5 Mb and to one single gene respectively, which led both groups independently to the detection of intragenic mutations in the gene coding for Smad interacting protein-1 (formerly SIP1, now called zinc finger homeobox 1B (ZFHX1B)) in patients with so called "syndromic HSCR". However, because HSCR is not an obligatory symptom and patients with and without HSCR can be recognised by other features, especially their . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

Relevant Article

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

D R Mowat, G D Croaker, D T Cass, B A Kerr, J Chaitow, L C Adès, N L Chia, M J Wilson
J. Med. Genet. 1998 35: 617-623. [Abstract] [PDF]

This article has been cited by other articles:

• Van de Putte, T., Francis, A., Nelles, L., van Grunsven, L. A., Huylebroeck, D. (2007). Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome. Hum Mol Genet 16: 1423-1436 [Abstract] [Full Text]  
• Rauch, A, Ruschendorf, F, Huang, J, Trautmann, U, Becker, C, Thiel, C, Jones, K W, Reis, A, Nurnberg, P (2004). Molecular karyotyping using an SNP array for genomewide genotyping. J. Med. Genet. 41: 916-922 [Abstract] [Full Text]  
• Ishihara, N, Yamada, K, Yamada, Y, Miura, K, Kato, J, Kuwabara, N, Hara, Y, Kobayashi, Y, Hoshino, K, Nomura, Y, Mimaki, M, Ohya, K, Matsushima, M, Nitta, H, Tanaka, K, Segawa, M, Ohki, T, Ezoe, T, Kumagai, T, Onuma, A, Kuroda, T, Yoneda, M, Yamanaka, T, Saeki, M, Segawa, M, Saji, T, Nagaya, M, Wakamatsu, N (2004). Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. J. Med. Genet. 41: 387-393 [Full Text]  
• Cerruti Mainardi, P, Pastore, G, Zweier, C, Rauch, A (2004). Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. J. Med. Genet. 41: e16-16 [Full Text]