Hypopigmentation in Angelman syndrome.
Hypopigmentation in Angelman syndrome.
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天使综合征中的色素沉着不足。
DOI：
10.1002/ajmg.1320460109
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
White,JG
中科院分区：
文献类型：
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作者：
King,RA;Wiesner,GL;Townsend,D;White,JG
染色体区域15 q被认为包含一个或多个基因，这些基因对头发、皮肤和眼睛中的黑色素合成很重要。在Prader-Willi（PWS）和Angelman（AS）综合征中发现了色素减退。我们已经检查了6个人与AS，以进一步表征这种情况下的色素模式。5名女孩和1名男孩的年龄范围为2.4至7.0岁。没有明显的白化病。头发颜色从浅金色到棕色不等。皮肤类型为I型3例，II型3例。眼球震颤2例，斜视4例，视网膜色素减少5例。AS患者的平均毛囊酪氨酸酶活性为0.37 ± 0.44 pmol/hb/120 min，范围为0.00 ~ 1.13（正常棕色对照组为1.49 ± 0.79，正常金发对照组为1.50 ± 0.85）。电子显微镜检查的毛球黑素细胞显示正常的黑素体和黑素细胞的结构和数量，但减少黑色素的形成，与许多阶段II和III premelanosomes，但很少阶段IV完全黑化黑素体。以浅色皮肤、视网膜色素减少、低毛球酪氨酸酶活性和黑素体不完全黑化为特征的色素减退是AS表型的一部分，与PWS中发现的相似。© 1993 Wiley‐利斯公司
Chromosome region 15q is thought to contain one or more genes that are important for melanin pigment synthesis in the hair, skin, and eyes. Hypopigmentation has been identified in the Prader‐Willi (PWS) and Angelman (AS) syndromes. We have examined 6 individuals with AS to further characterize the pigment pattern in this condition. The age of the 5 girls and one boy ranged from 2.4 to 7.0 years. None has obvious albinism. Hair color ranged from light blond to brown. Skin was type I in 3 and type II in 3. Eye changes included nystagmus in 2, strabismus in 4, and reduced retinal pigment in 5. The mean hairbulb tyrosinase activity was 0.37 ± 0.44 pmol/hb/120 min for the individuals with AS, with a range of 0.00 to 1.13 (normal brown control 1.49 ± 0.79, normal blond control 1.50 ± 0.85). Electron microscopic examination of hairbulb melanocytes showed normal melansome and melanocyte architecture and number, but reduced melanin formation, with many stage II and III premelanosomes but few stage IV fully melanized melanosomes. Hypopigmentation characterized by light skin, reduced retinal pigment, low hairbulb tyrosinase activity, and incomplete melanization of melanosomes is part of the phenotype of AS, and is similar to that found in PWS. © 1993 Wiley‐Liss, Inc.