DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
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DOI：
10.1002/humu.22315
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发表时间：
2013-06
期刊：
影响因子：
3.9
通讯作者：
Adams, David R.
中科院分区：
文献类型：
--
作者：
Simeonov, Dimitre R.;Wang, Xinjing;Wang, Chen;Sergeev, Yuri;Dolinska, Monika;Bower, Matthew;Fischer, Roxanne;Winer, David;Dubrovsky, Genia;Balog, Joan Z.;Huizing, Marjan;Hart, Rachel;Zein, Wadih M.;Gahl, William A.;Brooks, Brian P.;Adams, David R.
眼皮肤白化病（OCA）是一种罕见的遗传性黑色素合成障碍，导致头发，皮肤和眼睛色素减退。有四种类型的OCA，由TYR（OCA-1），OCA 2（OCA-2），TYRP 1（OCA-3）或SLC 45 A2（OCA-4）突变引起。在这里，我们报告了22个新的突变; 14个来自NIH OCA自然史研究的61名患者的队列，8个来自明尼苏达大学的先前研究。我们还包括一个全面的名单，近600个以前报告的OCA突变，沿着与种族信息，携带者频率，并在硅片致病性预测。除了讨论OCA的临床和分子特征外，我们还讨论了明显缺失遗传力的病例。在我们的队列中，25%的患者在单个OCA基因中没有两个突变。我们证明了多种检测方法的实用性，以揭示突变错过了桑格测序。最后，我们回顾了TYR p.R402Q温度敏感性变异，并确认其与白化病病例的关联，只有一个可识别的TYR突变。
Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA, caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and 8 from a prior study at the University of Minnesota. We also include a comprehensive list of almost 600 previously reported OCA mutations, along with ethnicity information, carrier frequencies, and in silico pathogenicity predictions. In addition to discussing the clinical and molecular features of OCA, we address the cases of apparent missing heritability. In our cohort, 25% of patients did not have two mutations in a single OCA gene. We demonstrate the utility of multiple detection methods to reveal mutations missed by Sanger sequencing. Finally, we review the TYR p.R402Q temperature sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation.
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影响因子：
14.9
作者：
Bromberg Y;Rost B
通讯作者：
Rost B
影响因子：
3.7
作者：
通讯作者：
--
影响因子：
6.5
作者：
Cullinane, Andrew R.;Vilboux, Thierry;O'Brien, Kevin;Curry, James A.;Maynard, Dawn M.;Carlson-Donohoe, Hannah;Ciccone, Carla;Markello, Thomas C.;Gunay-Aygun, Meral;Huizing, Marjan;Gahl, William A.
通讯作者：
Gahl, William A.
影响因子：
4.8
作者：
Berson, JF;Frank, DW;Marks, MS
通讯作者：
Marks, MS
影响因子：
30.8
作者：
DURHAMPIERRE, D;GARDNER, JM;BRILLIANT, MH
通讯作者：
BRILLIANT, MH