Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
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DOI：
10.1080/01677063.2017.1315417
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发表时间：
2017-03
影响因子：
1.9
通讯作者：
McKnight D
中科院分区：
文献类型：
--
作者：
Zou F;McWalter K;Schmidt L;Decker A;Picker JD;Lincoln S;Sweetser DA;Briere LC;Harini C;Members of the Undiagnosed Diseases Network;Marsh E;Medne L;Wang RY;Leydiker K;Mower A;Visser G;Cuppen I;van Gassen KL;van der Smagt J;Yousaf A;Tennison M;Shanmugham A;Butler E;Richard G;McKnight D
GABRG 2基因中的致病性错义和截短变体引起一系列癫痫，从Dravet综合征到轻度单纯性热性惊厥。在大多数情况下，GABRG 2基因中的致病性错义变体与热性癫痫发作表型分离。在这个病例系列中，我们报告了一个复发性的，从头错义变异（c.316 G>A; p.A106T）在GABRG 2基因，在五个无关的个人。这些患者被描述为具有比先前报道的GABRG 2错义变体更严重的表型。常见特征包括可变早发性癫痫发作、显著运动和言语延迟、智力残疾、张力减退、运动障碍、畸形特征和视力/眼部问题。我们的报告进一步探讨了GABRG 2变异家族中的一种复发性致病性错义变异，并拓宽了GABRG 2相关疾病的相关表型谱。
Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c.316 G>A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense variants. Common features include variable early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features, and vision/ocular issues. Our report further explores a recurrent pathogenic missense variant within the GABRG2 variant family and broadens the spectrum of associated phenotypes for GABRG2-associated disorders.
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影响因子：
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