Mowat-Wilson syndrome affecting 3 siblings.

Abstract

We herein report 3 cases of Mowat-Wilson syndrome, characterized by distinct facial features, severe psychomotor retardation, and epilepsy, recurring in 3 siblings from the same parents. The proband was a 15-month-old boy, the youngest of 3 children (2 elder sisters), who was referred to our hospital for the treatment of severe seizures. The clinical features and course of these 3 siblings were compatible with those of previously reported Mowat-Wilson syndrome patients, and all siblings had the same E87X nonsense mutation in ZFHX1B, whereas their mother did not show the mutation. Because Mowat-Wilson syndrome has been caused by de novo mutation in ZFHX1B, germ-line mosaicism should be considered if recurrence in siblings is observed.

• Authors: Motoko Ohtsuka, Hirokazu Oguni, Yasushi Ito, Tomohiro Nakayama, Mari Matsuo, Makiko Osawa, Kayoko Saito, Yasukazu Yamada, Nobuaki Wakamatsu
• Journal: Journal of child neurology (J Child Neurol) Vol. 23 Issue 3 Pg. 274-8 (Mar 2008) ISSN: 0883-0738 [Print] United States
• PMID: 18230842 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

• Abnormalities, Multiple
• Child
• Child, Preschool
• Codon, Nonsense (genetics)
• Craniofacial Abnormalities (complications, genetics)
• Epilepsy (complications, genetics)
• Facies
• Female
• Germ-Line Mutation (genetics)
• Homeodomain Proteins (genetics)
• Humans
• Infant
• Intellectual Disability (complications, genetics)
• Male
• Mosaicism
• Pedigree
• Repressor Proteins (genetics)
• Siblings
• Syndrome
• Zinc Finger E-box Binding Homeobox 2