Related Experiment Video

Updated: Apr 15, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

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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
PubMed

Insights

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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