Related Experiment Videos
On the inheritance of the split hand/split foot malformation
1Department of Human Genetics, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
American Journal of Medical Genetics
|October 15, 1994
Summary
Split hand/split foot malformation (SHSF) analysis reveals two distinct genetic entities. Type I SHSF exhibits regular autosomal dominant inheritance, while Type II shows variable penetrance, possibly influenced by other genes or trinucleotide repeat instability.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Split hand/split foot malformation (SHSF) is a limb malformation with diverse inheritance patterns.
- Previous studies suggest genetic heterogeneity in SHSF, but distinct entities remain to be fully elucidated.
Purpose of the Study:
- To differentiate between non-syndromal SHSF (Type I) and SHSF associated with other limb malformations (Type II).
- To investigate the genetic basis and inheritance patterns of these two distinct SHSF entities.
Main Methods:
- Analysis of family pedigrees with non-syndromal SHSF.
- Comparison of inheritance patterns and penetrance between SHSF Type I and Type II.
Main Results:
- Identified two distinct genetic entities for SHSF, likely caused by at least two autosomal dominant genes.
- SHSF Type I demonstrates regular autosomal dominant inheritance with high penetrance (96%).
- SHSF Type II exhibits unusual transmission with reduced penetrance (66%) in descendants, suggesting potential modifier genes or trinucleotide repeat instability.
Conclusions:
- Non-syndromal SHSF can be classified into at least two distinct genetic forms.
- SHSF Type II's variable penetrance may involve complex genetic interactions or novel mechanisms like trinucleotide repeat instability.