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
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
