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Split-hand/split-foot malformation with paternal mutation in the p63 gene
I Witters1, H Van Bokhoven, A Goossens
1Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium.
Prenatal Diagnosis
|January 12, 2002
Summary
Prenatal diagnosis identified severe split-hand/split-foot malformation in a fetus. A novel p63 gene mutation in the father suggests a genetic link for this rare limb anomaly.
Area of Science:
- Genetics
- Developmental Biology
- Medical Diagnostics
Background:
- Split-hand/split-foot malformation (SHSFM) is a rare congenital limb anomaly.
- Genetic factors play a significant role in the etiology of SHSFM.
- Prenatal diagnosis allows for early identification and management planning.
Observation:
- Bilateral SHSFM with severe lobster claw deformity was diagnosed prenatally at 16 weeks' gestation in a male fetus.
- The father exhibited a milder, unilateral form of SHSFM affecting his feet.
- Genetic analysis revealed a novel missense mutation (K193E) in the p63 gene in the affected father.
Findings:
- The identified p63 gene mutation (577A-->G, K193E) is a new finding in SHSFM cases.
- This mutation is similar to a previously reported mutation (K194E) associated with SHSFM.
- The genetic findings support a hereditary component of SHSFM within this family.
Implications:
- This case expands the known spectrum of p63 gene mutations associated with SHSFM.
- Understanding the genetic basis of SHSFM aids in genetic counseling and family risk assessment.
- Further research into p63 gene function is crucial for understanding limb development and malformations.