一种新型 MBTPS2 基因突变导致毛囊角化病、脱发和畏光综合征。
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
机构信息
Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
出版信息
Mol Genet Genomic Med. 2019 Aug;7(8):e812. doi: 10.1002/mgg3.812. Epub 2019 Jun 18.
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.
背景
滤泡性鱼鳞病、脱发和畏光（IFAP）综合征是一种罕见的 X 连锁遗传性皮肤病，其特征为非炎症性棘状毛囊角化过度、严重畏光和非瘢痕性脱发，严重程度不一。IFAP 综合征是由编码膜结合转录因子肽酶、位点 2（MBTPS2）的基因突变引起的。
方法
我们介绍了一名 11 岁男性患者，其具有 IFAP 综合征的典型临床特征，包括弥漫性滤泡性角化过度、脱发、畏光、银屑病样斑块、身材矮小、指甲营养不良、智力障碍和癫痫发作。
结果
在我们的患者中发现了膜结合转录因子肽酶、位点 2 基因（MBTPS2）中的一个新的错义突变（NM_015884.4：c.1298T>C；NP_056968.1：p.L433P）。其母亲存在杂合的 MBTPS2 突变，但父亲不存在。
结论
本研究在 IFAP 综合征患者中发现了一个新的 MBTPS2 突变，从而扩展了已知的 MBPTS2 分子谱。
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