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<p>Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome type I is a rare, X-linked disorder resulting from pathogenic variants in <i>MBTPS2</i>. Here we report a Pakistani IFAP pedigree of three affected individuals harboring the recurrent <i>MBTPS2</i> splice-site variant c.970+5G&gt;A that was reported previously in Chinese and Argentinian families. Haplotype analyses across these three families excluded a founder effect, establishing c.970+5G&gt;A as a recurrent mutational hotspot. In addition, phenotypic severity varied across the families, suggesting additional modifiers.</p>

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Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月14日

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  • Sheetal Kumar,
  • Sohail Ahmed,
  • Pietro Incardona,
  • Nicole Cesarato,
  • Yue Zhang,
  • Monica Ines Natale,
  • Muhammad Javed Khan,
  • Laura Valinotto,
  • Kifayat Ullah,
  • Wasim Ahmad,
  • Ines Irurzun,
  • Peter M. Krawitz,
  • Bo Liang,
  • Regina C. Betz

摘要

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.