Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

April 2014 in “ PLoS ONE ”

Doroteya Raykova, Joakim Klar, Aysha Azhar, Tahir Naeem Khan, Naveed Altaf Malik, Muhammad Iqbal, Muhammad Tariq, Shahid Mahmood Baig, Niklas Dahl

KRT74 keratin intermediate filaments autosomal recessive pure hair and nail ectodermal dysplasia AR PHNED autosomal dominant woolly hair hypotrichosis simplex immunohistochemical analyses Keratin-74 keratin

Studysummary In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder. Our plain-language summary of this paper — not a Tressless recommendation.

The study investigated a consanguineous Pakistani family with autosomal recessive pure hair and nail ectodermal dysplasia (AR PHNED) and identified a rare homozygous c.821T>C variant (p.Phe274Ser) in the KRT74 gene. This mutation, which affects the stability of keratin intermediate filaments, was linked to the condition in the family, as confirmed by immunohistochemical analyses showing loss of Keratin-74 expression in affected individuals. This was the first time a KRT74 missense variant was associated with AR PHNED, expanding the known phenotypic spectrum of KRT74 mutations, which were previously linked to autosomal dominant woolly hair/hypotrichosis simplex (ADWH).

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