Background: Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have...Background: Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have been reported. The affected individuals experience a diffuse progressing hair loss from childhood to adulthood that is confined to the scalp. Recently, HSS has been mapped to the short arm of chromosome 6 (6p21.3), allowing mutations in the comeodesmosin gene (CDSN) to be identified as the cause of the disorder. To date, two stop mutations have been found in three unrelated families with HSS of different ethnic origin. Objectives: To describe the first HSS-family with Latin American (Mexican) background comprising 6 generations and to identify a mutation in the CDSN gene. Patients/Methods: The patients were examined by a clinician and blood samples were taken. After DNA extraction, sequencing analysis of the CDSN gene and restriction enzyme analysis with PsuI were performed. Results: By direct sequencing of the two exons of the CDSN gene, a nonsense mutation was identified in the index patient in exon 2, resulting in a premature stop codon (Y239X). The mutation cosegregates perfectly in the fam-ily with the disease and was not found in 300 control chromosomes using a restriction enzyme analysis with PsuI. Conclusions: A nonsense mutation was identified in the first family with HSS of Latin American ethnical background. Our data provide molecular genetic evidence for a 3rd stop mutation in exon 2 of the CDSN gene being responsible for HSS. All to date known nonsense mutations responsible 3 for HSS are clustered in a region of 40 amino acids which is in accordance with a dominant negative effect conferred by aggregates of truncated CDSN proteins.展开更多
人载脂蛋白M（apolipoprotein M,ApoM）基因定位于6号染色体短臂p21.31,其cDNA编码188个氨基酸序列,主要存在于人血浆高密度脂蛋白（high density lipoprotein,HDL）中,参与前β-HDL的形成,调节胆固醇的逆转运[1-2].另外,ApoM是1-磷酸...人载脂蛋白M（apolipoprotein M,ApoM）基因定位于6号染色体短臂p21.31,其cDNA编码188个氨基酸序列,主要存在于人血浆高密度脂蛋白（high density lipoprotein,HDL）中,参与前β-HDL的形成,调节胆固醇的逆转运[1-2].另外,ApoM是1-磷酸鞘氨醇（sphingosine-1-phosphate,S1P）的生理性载体,ApoM结合S1P后,能够限制单核细胞黏附到血管内皮细胞从而起到抗炎作用[3].展开更多
文摘Background: Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have been reported. The affected individuals experience a diffuse progressing hair loss from childhood to adulthood that is confined to the scalp. Recently, HSS has been mapped to the short arm of chromosome 6 (6p21.3), allowing mutations in the comeodesmosin gene (CDSN) to be identified as the cause of the disorder. To date, two stop mutations have been found in three unrelated families with HSS of different ethnic origin. Objectives: To describe the first HSS-family with Latin American (Mexican) background comprising 6 generations and to identify a mutation in the CDSN gene. Patients/Methods: The patients were examined by a clinician and blood samples were taken. After DNA extraction, sequencing analysis of the CDSN gene and restriction enzyme analysis with PsuI were performed. Results: By direct sequencing of the two exons of the CDSN gene, a nonsense mutation was identified in the index patient in exon 2, resulting in a premature stop codon (Y239X). The mutation cosegregates perfectly in the fam-ily with the disease and was not found in 300 control chromosomes using a restriction enzyme analysis with PsuI. Conclusions: A nonsense mutation was identified in the first family with HSS of Latin American ethnical background. Our data provide molecular genetic evidence for a 3rd stop mutation in exon 2 of the CDSN gene being responsible for HSS. All to date known nonsense mutations responsible 3 for HSS are clustered in a region of 40 amino acids which is in accordance with a dominant negative effect conferred by aggregates of truncated CDSN proteins.
文摘人载脂蛋白M（apolipoprotein M,ApoM）基因定位于6号染色体短臂p21.31,其cDNA编码188个氨基酸序列,主要存在于人血浆高密度脂蛋白（high density lipoprotein,HDL）中,参与前β-HDL的形成,调节胆固醇的逆转运[1-2].另外,ApoM是1-磷酸鞘氨醇（sphingosine-1-phosphate,S1P）的生理性载体,ApoM结合S1P后,能够限制单核细胞黏附到血管内皮细胞从而起到抗炎作用[3].
