Recurrent MBTPS2 Variant c.970+5G>A in IFAP Syndrome: A Mutational Hotspot

April 2026 in “ Human Genome Variation ”

Sheetal Kumar, Sohail Ahmed, Pietro Incardona, Nicole Cesarato, Yue Zhang, Mónica Natale, Dr. Muhammad Imran Khan, Laura Elena Valinotto, Kifayat Ullah, Wasim Ahmad, Inés Irurzun, Peter M. Krawitz, Bo Liang, Regina C. Betz

MBTPS2 IFAP syndrome splice-site variant haplotype analyses mutational hotspot

This study reports on a Pakistani family with three individuals affected by IFAP syndrome type I, linked to the recurrent MBTPS2 splice-site variant c.970+5G>A. This variant has also been identified in Chinese and Argentinian families. Haplotype analyses indicate that this is a recurrent mutational hotspot rather than a result of a founder effect. The study also notes variability in phenotypic severity among the families, suggesting the presence of additional modifying factors.

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Research cited in this study

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research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

34 citations , July 2020 in “American journal of human genetics”

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation

14 citations , December 2010 in “Journal of human genetics”

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.