Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
Sheetal Kumar1, Sohail Ahmed1,2, Pietro Incardona3
1Institute of Human Genetics, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.
Human Genome Variation
|April 13, 2026
Summary
Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome type I is a rare X-linked disorder. A Pakistani family study identified a recurrent MBTPS2 gene variant, suggesting it
Area of Science:
- Genetics
- Rare Diseases
- Dermatology
Background:
- Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome type I is a rare X-linked disorder.
- It is caused by pathogenic variants in the MBTPS2 gene.
Purpose of the Study:
- To report a Pakistani IFAP pedigree with a recurrent MBTPS2 variant.
- To investigate the mutational hotspot and phenotypic variability.
Main Methods:
- Genetic analysis of a Pakistani IFAP family.
- Haplotype analysis across multiple families.
Main Results:
- Identified the recurrent MBTPS2 splice-site variant c.970+5G>A in a Pakistani IFAP pedigree.
- Haplotype analysis excluded a founder effect for this variant.
- Observed variable phenotypic severity among families.
Conclusions:
- The MBTPS2 variant c.970+5G>A is a recurrent mutational hotspot.
- Additional genetic or environmental factors may modify IFAP syndrome severity.
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