Medical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco.
Laboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Casablanca, Morocco.
J Int Med Res. 2023 Jul;51(7):3000605231187931. doi: 10.1177/03000605231187931.
Variants in are associated with several diseases, including developmental and epileptic encephalopathy, intermediate epilepsy or mild-to-moderate developmental and epileptic encephalopathy, self-limited familial infantile epilepsy, neurodevelopmental delays with generalized epilepsy, neurodevelopmental disorder without epilepsy, hypotonia, and movement disorders. Herein, we report an 8-year-old Moroccan boy with intermediate epilepsy of unknown origin, intellectual disability, autism spectrum disorder, and hyperactivity. The patient presented a normal 46, XY karyotype and a normal comparative genomic hybridization profile. Whole-exome sequencing was performed, and heterozygous variants were identified in and . The variant [c.4499C > T (p.Pro1500Leu)] was also detected in the healthy mother and was classified as a variant of uncertain clinical significance. This variant occurs in a highly conserved domain, which may affect the function of the encoded protein. More studies are needed to confirm the pathogenicity of this novel variant to establish the effective care, management, and genetic counselling of affected individuals.
位于 上的变异与多种疾病相关，包括发育性和癫痫性脑病、中度癫痫或轻度至中度发育性和癫痫性脑病、自限性家族性婴儿癫痫、伴全面性癫痫的神经发育迟缓、无癫痫的神经发育障碍、肌张力低下和运动障碍。在此，我们报告了一例 8 岁摩洛哥男孩，患有病因不明的中度癫痫、智力残疾、自闭症谱系障碍和多动。患者的 46，XY 核型正常，比较基因组杂交图谱正常。进行了全外显子组测序，在 和 中发现了杂合变异。该患者还携带了 的变异 [c.4499C>T(p.Pro1500Leu)]，其健康母亲也携带该变异，被归类为临床意义不明的变异。该变异发生在高度保守的结构域中，可能影响编码蛋白的功能。需要进一步的研究来确认该新型变异的致病性，以对受影响的个体进行有效的护理、管理和遗传咨询。
