一家系先天性秃发的基因定位

目的:通过定位克隆或定位后选克隆技术识别先天性秃发的致病基因。方法:将家系成员外周血基因组DNA,利用微卫星标记技术,对文献报道过的与毛发和外胚层发育有关的5,6,7,8,17,18号染色体进行基因组扫描,采用Genescan和Genotyper软件进行基因分型,采用Linkage软件包进行连锁分析,初步确定致病基因所在的染色体的位置。结果:未发现与5,6,7,8,17,18号染色体连锁的微卫星标记。结论:先天性秃发可能具有基因异质性。     

汗孔角化症的致病基因研究进展北大核心CSCD

汗孔角化症（porokeratosis,PK）是一种慢性进行性角化不全性皮肤病,临床以边缘堤状疣状隆起、中央轻度萎缩为特点,组织学以角质样板层为特点。病因不明,大多数学者认为是一种外显不全并具有遗传异质性的常染色体显性遗传性皮肤病,但是研究表明,紫外线照射、免疫抑制、创伤、感染（如人乳头瘤病毒、     

Hereditary hypotrichosis simplex: report of a family

We report a family with hereditary hypotrichosis simplex of the scalp, a rare disorder that was first described in 1974. In our family, four out of 10 siblings were affected, including three females and one male. Examination showed thinning of the scalp hair and sparse body hair. Eyebrows, eyelashes, pubic and axillary hair were normal. Skin, nails and teeth were also normal. Hair shaft examination did not reveal any structural abnormalities. Normal follicular units, hair shafts within follicles, eccrine glands and a lack of inflammation were seen on histopathology. The primary pathology underlying this genodermatosis is unclear, but the anagen phase of the hair cycle is clearly compromised.     

Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family

Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) are both autosomal dominant disorders. Recently, certain genes (HR and EPS8L3) have been found to be responsible for MUHH, while CYLD has been demonstrated to be the main pathogenic gene in MFT patients. However, there exist a number of CYLD mutation‐negative MFT cases, for which the causative gene has been unknown. Here, we identified a large, five‐generation Han Chinese family with several patients presenting with MUHH and MFT. Sanger sequencing of three genes in 13 family members was performed. We found that the c.1A>G mutation in an inhibitory upstream open‐reading frame of HR (U2HR) was present in all MUHH patients, while no pathogenic variants were found in the 3?‐ or 5?‐untranslated regions, exons or flanking intronic sequences of EPS8L3 or CYLD in any family members. Subsequently, whole‐genome sequencing was performed for five affected and one unaffected family member. We found no CYLD variants but identified an FABP12 variant (rs536105592 G>A) in the patients with both MUHH and MFT. These results suggest that the U2HR mutation was responsible for MUHH and the FABP12 variant may be coincidental in the accompanying MFT in this unique pedigree. This report deepens our understanding of the genetic basis of hair follicle diseases.     

A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family

Background: Hereditary hypotrichosis simplex (MIM 146520, HHS) is a rare form of nonsyndromic alopecia. The locus for autosomal dominant HHS was mapped to 18p11.32‐p11.23 and 6p21.3, respectively, suggestive of genetic heterogeneity. Aim: To identify the disease‐causing gene for a four‐generation Chinese family with dominant transmission of a form of HHS. The work was carried out at State Key Laboratory of Medical Genomics. Methods: Genome‐wide screening was carried out in a Chinese family with HHS using microsatellite markers, and linkage analysis was performed using the MLINK program. Results: The highest two‐point logarithm of the odds (LOD) score was obtained with the microsatellite marker D13S217 (LOD score of 4.041 at θ = 0.00). After fine mapping and haplotype analysis, we defined a critical region of about 9.57 cM flanked by markers D13S1243 and D13S1299. The disease‐causing gene was mapped to 13q12.12～12.3 in this family. Conclusions: A novel locus for HHS maps to chromosome 13q12.12～12.3 in a Chinese family. Xu C, Zhang L, Chen N, Su B, Pan C‐M, Li J‐Y, Zhang G‐W, Liu Z, Sheng Y, Song H‐D. A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12～12.3 in a Chinese family.     

Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder with progressive hair loss starting in early childhood and aggravating at puberty. Several studies have mapped the MUHH gene to chromosome 8p21. Here we report a Chinese MUHH family with variable phenotypes. All affected individuals have anomalies affecting both hair density and hair shafts. Major clinical characteristics, disease history and histological examination support the diagnosis of MUHH, but the features of scarring in this kindred are modest and none of the patients have vertex hair loss, which is in contrast with typical MUHH. We now report genotyping and linkage analysis using 11 polymorphic microsatellite markers spanning the MUHH locus at 8p. Two-point linkage analysis using these markers revealed significant exclusion of this locus (log of the odds scores < - 2) at Theta = 0 indicating that there is a range of clinical presentations in MUHH, and that more than one genetic locus is responsible for the disorder.     

Marie Unna hereditary hypotrichosis.

Hereditary congenital hypotrichosis is an autosomal dominant pilar dysplasia first described by Marie Unna in an extended German family. The diffuse hair defect typically occurs as an isolated phenomenon and the ultrastructural hair findings consist of both torsion and longitudinal grooving of the hair shaft. A large pedigree comprising 6 generations with 20 members affected by Marie Unna hypotrichosis from Italy is reported.