Male patients affected by mosaic PCDH19 mutations: five new cases.
Male patients affected by mosaic PCDH19 mutations: five new cases.
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DOI：
10.1007/s10048-017-0517-5
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发表时间：
2017-07
期刊：
影响因子：
2.2
通讯作者：
Brilstra EH
中科院分区：
文献类型：
--
作者：
de Lange IM;Rump P;Neuteboom RF;Augustijn PB;Hodges K;Kistemaker AI;Brouwer OF;Mancini GMS;Newman HA;Vos YJ;Helbig KL;Peeters-Scholte C;Kriek M;Knoers NV;Lindhout D;Koeleman BPC;van Kempen MJA;Brilstra EH
PCDH19基因的致病变异与癫痫、智力残疾(ID)和行为障碍有关。只有杂合雌性和马赛克雄性会受到影响，可能是由于一种名为细胞干扰的疾病机制。到目前为止，文献中只描述了四名受影响的马赛克男性患者。在这里，我们报告了另外5名男性患者，其中4名比迄今报告的年龄最大的患者年龄更大。所有报告的患者都是因为发育迟缓和/或癫痫而被选择进行基因测试。使用针对癫痫基因的定制靶向下一代测序基因面板。临床资料收集自病历。所有患者都在血液中嵌合了PCDH19基因可能的致病变异。大多数患者的临床特征与女性表型非常相似，发作前发育正常，发病年龄在5至10个月之间，癫痫发作呈聚集性，对发热敏感。五分之四的患者有轻微到严重的ID和行为问题。我们重申男性和女性PCDH19相关表型之间的相似性，现在也处于疾病的后期阶段(10-14岁)。本文的在线版本(doi：10.1007/s10048-0170517-5)包含补充材料，授权用户可以使用。
Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature. Here, we report five additional male patients, of which four are older than the oldest patient reported so far. All reported patients were selected for genetic testing because of developmental delay and/or epilepsy. Custom-targeted next generation sequencing gene panels for epilepsy genes were used. Clinical data were collected from medical records. All patients were mosaic in blood for likely pathogenic variants in the PCDH19 gene. In most, clinical features were very similar to the female phenotype, with normal development before seizure onset, which occurred between 5 and 10 months of age, clustering of seizures and sensitivity to fever. Four out of five patients had mild to severe ID and behavioural problems. We reaffirm the similarity between male and female PCDH19-related phenotypes, now also in a later phase of the disorder (ages 10–14 years). The online version of this article (doi:10.1007/s10048-017-0517-5) contains supplementary material, which is available to authorized users.
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DOI：
10.1083/jcb.201507108
发表时间：
2015-11-23
期刊：
The Journal of cell biology
影响因子：
--
作者：
Cooper SR;Emond MR;Duy PQ;Liebau BG;Wolman MA;Jontes JD
通讯作者：
Jontes JD
影响因子：
2.2
作者：
van Harssel, J. J. T.;Weckhuysen, S.;Brilstra, E. H.
通讯作者：
Brilstra, E. H.
影响因子：
4.6
作者：
Pederick, Daniel T.;Homan, Claire C.;Thomas, Paul Q.
通讯作者：
Thomas, Paul Q.
影响因子：
1.9
作者：
Leonardi, Emanuela;Sartori, Stefano;Murgia, Alessandra
通讯作者：
Murgia, Alessandra
影响因子：
3.9
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
通讯作者：
LeGuern, Eric