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Mowat-Wilson syndrome affecting 3 siblings

Motoko Ohtsuka1, Hirokazu Oguni, Yasushi Ito

  • 1Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo.

Journal of Child Neurology
|January 31, 2008
PubMed

Insights

Mowat-Wilson syndrome, a genetic disorder, recurred in three siblings due to a ZFHX1B mutation. Germline mosaicism is suggested when the mutation appears in siblings but not parents.

Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Mowat-Wilson syndrome is a rare genetic disorder.
  • It is characterized by distinct facial features, severe psychomotor retardation, and epilepsy.
  • Mutations in the ZFHX1B gene are known causes of Mowat-Wilson syndrome.

Observation:

  • Three siblings from the same parents presented with clinical features consistent with Mowat-Wilson syndrome.
  • All affected siblings shared the same E87X nonsense mutation in the ZFHX1B gene.
  • The mutation was not detected in the mother, ruling out simple inheritance.

Findings:

  • The recurrence of Mowat-Wilson syndrome in siblings with a shared ZFHX1B mutation.
  • The absence of the mutation in the mother suggests a non-parental source of the mutation.

Implications:

  • Germline mosaicism in the ZFHX1B gene should be considered in cases of recurrent Mowat-Wilson syndrome.
  • This finding has implications for genetic counseling and recurrence risk assessment for families.
  • Further research into the mechanisms of germline mosaicism in ZFHX1B is warranted.

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