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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
Summary
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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