Zhang J, Wang Y, Cheng R, Ni C, Liang J, Li M, Yao Z
Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Clin Exp Dermatol. 2016 Oct;41(7):757-60. doi: 10.1111/ced.12889.
Keratosis follicularis spinulosa decalvans (KFSD) is an X-linked condition characterized by keratotic follicular papules and progressive alopecia, which is caused by mutations in the MBTPS2 gene. We carried out a genetic study on a child who was suspected clinically to have KFSD. Sanger sequencing was performed to detect mutations in the entire coding region of MBTPS2. A novel missense mutation (c.599C>T) was identified in the patient, confirming a diagnosis of KFSD. We reviewed related cases with MBTPS2 mutations for evidence of genotype-phenotype correlations.
毛囊角化性棘皮瘤性秃发（KFSD）是一种X连锁疾病，其特征为角化性毛囊丘疹和进行性脱发，由MBTPS2基因突变引起。我们对一名临床疑似患有KFSD的儿童进行了基因研究。采用桑格测序法检测MBTPS2整个编码区的突变。在该患者中鉴定出一种新的错义突变（c.599C>T），确诊为KFSD。我们回顾了与MBTPS2突变相关的病例，以寻找基因型-表型相关性的证据。
