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Autosomal dominant inheritance in Setleis syndrome
M Masuno1, K Imaizumi, Y Makita
1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
American Journal of Medical Genetics
|May 22, 1995
Summary
Setleis syndrome, a rare genetic disorder, is now understood to be inherited in an autosomal dominant pattern, with variable expressivity and reduced penetrance. This finding aids in diagnosing and understanding the genetic basis of Setleis syndrome.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Setleis syndrome presents with distinctive bitemporal skin depressions, eyelash abnormalities, and a leonine facial appearance.
- Previous hypotheses suggested autosomal recessive inheritance for Setleis syndrome.
- Recent studies indicated potential autosomal dominant inheritance patterns.
Observation:
- A 9-month-old Japanese boy presented with classic Setleis syndrome.
- His father exhibited mild bitemporal focal dermal dysplasia without a leonine face.
- A paternal second cousin was also diagnosed with Setleis syndrome.
Findings:
- The described family demonstrates autosomal dominant inheritance of Setleis syndrome.
- Father-to-son transmission was observed, highlighting the inheritance pattern.
- Variable expressivity and reduced penetrance were noted within the family.
Implications:
- This study refines the understanding of Setleis syndrome inheritance.
- Autosomal dominant inheritance with variable expressivity is crucial for genetic counseling.
- Thorough examination of relatives is recommended for early diagnosis and management.