Pitfalls of Mapping a Large Turkish Consanguineous Family With Vertical Monilethrix Inheritance

January 2009 in “ PubMed ”

Figen Celep, Abdullah Üzümcü, F M Sonmez, Zehra Oya Uyguner, Y Isik Balci, S Bahadır, Ahmet Karagüzel

Monilethrix autosomal dominant hair fragility dystrophic alopecia KRT86 gene E402K mutation haplotype analysis Simple Tandem Repeat markers patchy hair loss

TLDR A mutation in the KRT86 gene causes hair fragility in a Turkish family.

The study investigated a large Turkish family with 11 members affected by Monilethrix, a rare autosomal dominant condition leading to hair fragility and patchy dystrophic alopecia. Researchers used haplotype analysis with three Simple Tandem Repeat markers and sequenced the KRT86 gene, identifying an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as the cause of the disease in this family.

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Pitfalls of Mapping a Large Turkish Consanguineous Family With Vertical Monilethrix Inheritance

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