KRT81 – Monilethrix

In a study of two unrelated Indian families, Monilethrix segregated with distinct HTM region variants in KRT81 in the context of an E413K mutation in KRTHB6. Twenty-one affected individuals carried a homozygous exonic variant haplotype in KRT81 and these variants were absent in 150 unaffected controls, supporting a modulatory role for KRT81 in disease severity (PMID:15050877).

These findings are consistent with an autosomal recessive modifier effect of KRT81 HTM variants in monilethrix. Genetic testing of KRT81 HTM region variants may refine diagnosis and prognostication in monilethrix. Key take-home: KRT81 variants influence monilethrix severity and warrant inclusion in diagnostic panels.

References

• Annales de genetique • 2004 • A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. PMID:15050877

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