Mowat-Wilson syndrome and mutation of the Zinc Finger Homeo Box 1B gene: A new syndrome probably under-diagnosed

Paola Cerruti Mainardi, L. Garavelli, G. Pastore, R. Virdis, S. Pedori, M. Godi, S. Provera, A. Rauch, C. Zweier, C. Castronovo, M. Zollino, G. Banchini, S. Bernasconi, G. Neri

Research output: Contribution to journalArticlepeer-review


Objectives. The aim of this study is to increase the awareness of a probably under-diagnosed syndrome. Clinical recognition of the syndrome in infants and children with and without HSCR is important for the selection of patients for cytogenetic and molecular analyses. Methods. The clinical features of four Italian patients are reported. FISH and mutational analyses were performed. Evaluation of psychomotor development was performed using the Denver Developmental Screening Test II (DDTS II). Results. All four patients presented with mutations of the ZFHX1B gene; patients 1, 3 and 4 showed novel mutations, never previously described. The clinical features of our patients were compared with those of the literature. The most frequent malformations were HSCR (62.8%), congenital heart diseases (50.7%), agenesis of the corpus callosum (45.6%). Hypospadias were present in 46.2% of the patients. Seizures were very frequent (75.0%). Conclusions. Mowat-Wilson syndrome is well recognisable, like classical genetic syndromes, for the distinct facial phenotype, the associated malformations, seizures, microcephaly and severe mental retardation. The confirmation of the diagnosis by the presence of mutations in the ZFHX1B gene is important for genetic counselling since all patients thus far reported have been sporadic findings, even if the possibility of gonadal mosaicism cannot be excluded.

Original languageEnglish
Pages (from-to)116-125
Number of pages10
JournalItalian Journal of Pediatrics
Issue number2
Publication statusPublished - Apr 2005


  • HSCR
  • Mental retardation
  • Mowat-Wilson syndrome
  • ZFHX1B gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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