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A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
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ABSTRACT: Background
The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non-scarring alopecia with variable severities. IFAP syndrome results from mutations in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2).Methods
We present an 11-year-old male with typical clinical features of IFAP syndrome, including diffuse follicular hyperkeratosis, alopecia, photophobia, psoriasiform plaques, short statue, nail dystrophy, mental retardation, and seizures.Results
A novel missense mutation (NM_015884.4: c.1298T > C; NP_056968.1: p. L433P) in the membrane-bound transcription factor peptidase, site 2 gene (MBTPS2) was identified in our patient. The heterozygous MBTPS2 mutation was identified in his mother but not his father.Conclusion
This study demonstrated a novel MBTPS2 mutation in a patient with IFAP syndrome and thus expands the known MBPTS2 molecular repertoire.
SUBMITTER: Jiang Y
PROVIDER: S-EPMC6687642 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Publications
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
Molecular genetics & genomic medicine 20190618 8
<h4>Background</h4>The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non-scarring alopecia with variable severities. IFAP syndrome results from mutations in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2).<h4>Methods</h4>We present an 11-year-old male with typical clinical features of IFAP syndrome, including diffuse ...[more]