Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants
TLDR A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
The document describes a study involving a Japanese mother and daughter with features of autosomal-dominant ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome. Whole-exome sequencing identified a heterozygous missense mutation c.1669C>T (p.Arg557Cys) in the SREBF1 gene, which is involved in lipid biosynthesis. This mutation is the same as those found in hereditary mucoepithelial dysplasia (HMD) and other AD IFAP cases, suggesting that HMD and AD IFAP are related conditions within a clinical spectrum caused by SREBF1 variants. The study underscores the importance of SREBP1 signaling in maintaining hair, skin, and ocular health. The mutation c.1669C>T (p.Arg557Cys) in SREBF1 is highlighted as a key mutation for both HMD and AD IFAP syndrome. No new data was generated for this study, and it was funded by Japanese grants without any conflicts of interest reported.
