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Article

Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3.

Journal of human genetics - 1 Aug 2021

Tahara Umi, Yasuda Masahito, Yamada Yozo, Aoki Satomi, Sato Showbu, Amagai Masayuki, Kubo Akiharu

Abstract excerpt

FGFR3 encodes a transmembrane receptor tyrosine kinase that has six autophosphorylation sites of tyrosine. Among them, Y770 is a negative regulatory site for the downstream signaling of FGFR3. Constitutive active mutations in FGFR3 are involved in human developmental disorders including familial acanthosis nigricans, an autosomal dominant disorder characterized by general hyperpigmentation with mild acanthosis of...

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PMID: 33580140
DOI: 10.1038/s10038-021-00905-1

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