The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.
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DOI：
10.1016/j.ejpn.2021.10.011
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发表时间：
2022-01
影响因子：
3.1
通讯作者：
Koy, Anne
中科院分区：
文献类型：
--
作者：
Fazeli, Walid;Bamborschke, Daniel;Moawia, Abubakar;Bakhtiari, Somayeh;Tafakhori, Abbas;Giersdorf, Matthias;Hahn, Andreas;Weik, Anja;Kolzter, Kirsten;Shafiee, Sajad;Jin, Sheng Chih;Koerber, Friederike;Lee-Kirsch, Min Ae;Darvish, Hossein;Cirak, Sebahattin;Kruer, Michael C.;Koy, Anne
PCDH 12是钙依赖性细胞粘附蛋白的非成簇原钙粘蛋白家族的成员，其参与脑发育和内皮粘附的调节。迄今为止，只有15个家庭报告了PCDH 12相关疾病。以前与PCDH 12缺乏相关的主要特征是发育迟缓、运动障碍、癫痫、小头畸形、视力障碍、中脑畸形和颅内钙化。在这里，我们报告了新的临床特征，如婴儿期后癫痫发作，短暂的发育倒退，并与三种不同的新型截断PCDH12突变在五个案件（三名儿童，两名成人）从三个无关的家庭延髓发育不良。有趣的是，我们的数据表明干扰素病的临床重叠，我们显示了两个儿科患者的干扰素评分升高。该病例系列扩展了PCDH 12相关疾病的遗传和表型谱，并突出了广泛的临床变异性。
PCDH12 is a member of the non-clustered protocadherin family of calcium-dependent cell adhesion proteins, which are involved in the regulation of brain development and endothelial adhesion. To date, only 15 families have been reported with PCDH12 associated disease. The main features previously associated with PCDH12 deficiency are developmental delay, movement disorder, epilepsy, microcephaly, visual impairment, midbrain malformations, and intracranial calcifications. Here, we report novel clinical features such as onset of epilepsy after infancy, episodes of transient developmental regression, and dysplasia of the medulla oblongata associated with three different novel truncating PCDH12 mutations in five cases (three children, two adults) from three unrelated families. Interestingly, our data suggests a clinical overlap with interferonopathies, and we show an elevated interferon score in two pediatric patients. This case series expands the genetic and phenotypic spectrum of PCDH12 associated diseases and highlights the broad clinical variability.
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影响因子：
9.9
作者：
Aran, Adi;Rosenfeld, Nuphar;Levy-Lahad, Ephrat
通讯作者：
Levy-Lahad, Ephrat
影响因子：
8.8
作者：
Pergande, Matthias;Motameny, Susanne;Cirak, Sebahattin
通讯作者：
Cirak, Sebahattin
影响因子：
14.5
作者：
Zaki, Maha S.;Saleem, Sahar N.;Grijalvo-Perez, Ana Maria
通讯作者：
Grijalvo-Perez, Ana Maria
影响因子：
4.8
作者：
Weiner JA;Jontes JD
通讯作者：
Jontes JD
原钙粘着蛋白12的丧失导致双脑脑脑发育不良综合征。
影响因子：
11.2
作者：
Guemez-Gamboa A;Çağlayan AO;Stanley V;Gregor A;Zaki MS;Saleem SN;Musaev D;McEvoy-Venneri J;Belandres D;Akizu N;Silhavy JL;Schroth J;Rosti RO;Copeland B;Lewis SM;Fang R;Issa MY;Per H;Gumus H;Bayram AK;Kumandas S;Akgumus GT;Erson-Omay EZ;Yasuno K;Bilguvar K;Heimer G;Pillar N;Shomron N;Weissglas-Volkov D;Porat Y;Einhorn Y;Gabriel S;Ben-Zeev B;Gunel M;Gleeson JG
通讯作者：
Gleeson JG