Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
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DOI：
10.1002/humu.21373
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发表时间：
2011-01
期刊：
影响因子：
3.9
通讯作者：
LeGuern, Eric
中科院分区：
文献类型：
--
作者：
Depienne, Christel;Trouillard, Oriane;Bouteiller, Delphine;Gourfinkel-An, Isabelle;Poirier, Karine;Rivier, Francois;Berquin, Patrick;Nabbout, Rima;Chaigne, Denys;Steschenko, Dominique;Gautier, Agnes;Hoffman-Zacharska, Dorota;Lannuzel, Annie;Lackmy-Port-Lis, Marilyn;Maurey, Helene;Dusser, Anne;Bru, Marie;Gilbert-Dussardier, Brigitte;Roubertie, Agathe;Kaminska, Anna;Whalen, Sandra;Mignot, Cyril;Baulac, Stephanie;Lesca, Gaetan;Arzimanoglou, Alexis;LeGuern, Eric
PCDH 19基因突变，编码X染色体上的原钙粘蛋白19，导致家族性癫痫和精神发育迟滞，仅限于女性或Dravet样综合征。杂合子的女性受到影响，而半合子男性则幸免，这种不寻常的遗传模式可能是由于一种称为细胞干扰的机制。为了扩展与PCDH 19相关的突变和临床谱，我们对150名患有发热性和无热性癫痫发作的无关患者（113名女性）进行了基因突变或重排的筛查。在15例女性患者（6例散发和9例家族性病例）中发现了15个新的点突变。此外，qPCR显示3例散发性女性患者中有2例全基因缺失和1例部分缺失。临床特征是高度可变的，但几乎总是包括对发热和短暂癫痫发作的高度敏感性。有趣的是，2个家族的几个家族成员的认知功能正常：家族1的家族性疾病提示全身性癫痫伴热性惊厥+（GEFS+），而所有3名受影响的女性均患有部分隐源性癫痫。这些结果表明，PCDH 19突变是女性癫痫的一个相对常见的原因，即使在没有家族史和/或精神发育迟滞的情况下也应该考虑。© 2010 Wiley-Liss公司。
Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. Heterozygous females are affected while hemizygous males are spared, this unusual mode of inheritance being probably due to a mechanism called cellular interference. To extend the mutational and clinical spectra associated with PCDH19, we screened 150 unrelated patients (113 females) with febrile and afebrile seizures for mutations or rearrangements in the gene. Fifteen novel point mutations were identified in 15 female patients (6 sporadic and 9 familial cases). In addition, qPCR revealed two whole gene deletions and one partial deletion in 3 sporadic female patients. Clinical features were highly variable but included almost constantly a high sensitivity to fever and clusters of brief seizures. Interestingly, cognitive functions were normal in several family members of 2 families: the familial condition in family 1 was suggestive of Generalized Epilepsy with Febrile Seizures Plus (GEFS+) whereas all three affected females had partial cryptogenic epilepsy. These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation. © 2010 Wiley-Liss, Inc.
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