Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome type I is a rare, X-linked disorder resulting from pathogenic variants in MBTPS2. Here we report a Pakistani IFAP pedigree of three affected individuals harboring the recurrent MBTPS2 splice-site variant c.970+5G>A that was reported previously in Chinese and Argentinian families. Haplotype analyses across these three families excluded a founder effect, establishing c.970+5G>A as a recurrent mutational hotspot. In addition, phenotypic severity varied across the families, suggesting additional modifiers.
Authors
- Nicole Cesarato (ORCID: https://orcid.org/0000-0001-8099-8146)
- Inés Irurzun
- Regina C. Betz (ORCID: https://orcid.org/0000-0001-5024-3623)
- Sohail Ahmed (ORCID: https://orcid.org/0000-0003-4836-0948)
- Mónica Natale (ORCID: https://orcid.org/0000-0002-8197-6819)
- Pietro Incardona (ORCID: https://orcid.org/0009-0000-5021-5729)
- Kifayat Ullah (ORCID: https://orcid.org/0000-0002-3522-6144)
- Laura Elena Valinotto
- Yue Zhang
- Peter M. Krawitz
- Bo Liang
- Sheetal Kumar
- Wasim Ahmad
Institutions
- Quaid-i-Azam University (PK)
- Anhui Medical University (CN)
- University of Balochistan (PK)
- University Hospital Bonn (DE)
- Centro Científico Tecnológico - San Juan (AR)
- First Affiliated Hospital of Anhui Medical University (CN)
- National University of Formosa (AR)
- Hospital General de Niños Ricardo Gutierrez (AR)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2026-04-14
- DOI
- https://doi.org/10.1038/s41439-026-00346-2
- Primary Topic
- Hair Growth and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Forschungsgemeinschaft