Abstract
A case of ichthyosis follicularis, alopecia and photophobia syndrome caused by a novel mutation c.1165C>T in the membrane-bound transcription factor protease site 2 (MBTPS2) gene was firstly reported. The proband presented with dry skin, congenital hairlessness, follicular keratotic papules, photophobia, epilepsy, and mental and motor retardation. Next-generation and Sanger sequencing analysis confirmed that the proband and his mother both had a c.1165C>T (p.pro389Ser) mutation in exon 9 of the MBTPS2 gene. According to the clinical manifestations of the patient and genetic characteristics of the MBTPS2 gene mutation, the patient was diagnosed with ichthyosis follicularis, alopecia and photophobia syndrome. Key words: Ichthyosis; Alopecia; Photophobia; Point mutation; Ichthyosis follicularis, atrichia and photophobia syndrome
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