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Mowat-Wilson Syndrome Affecting 3 Siblings

Department of Pediatrics, Tokyo Women's Medical University

Hirokazu Oguni, MD

Department of Pediatrics, Tokyo Women's Medical University, hoguni{at}ped.twmu.ac.jp

Yasushi Ito, MD

Department of Pediatrics, Tokyo Women's Medical University

Tomohiro Nakayama, MD

Department of Pediatrics, Tokyo Women's Medical University

Mari Matsuo, MD

Department of Pediatrics, Tokyo Women's Medical University

Makiko Osawa, MD

Department of Pediatrics, Tokyo Women's Medical University

Kayoko Saito, MD

Institute of Medical Genetics Tokyo Women's Medical University

Yasukazu Yamada, PhD

Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan

Nobuaki Wakamatsu, MD

Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan

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.

Key Words: Mowat-Wilson syndrome • facial dysmorphism • ZFHX1B • germ-line mosaicism

This version was published on March 1, 2008

Journal of Child Neurology, Vol. 23, No. 3, 274-278 (2008)
DOI: 10.1177/0883073807309231


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