Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Thiruvananthapuram 695 011, India.
J Genet. 2022;101.
Open reading frame variants which lack stop codons such as variants are known to cause Temtamy syndrome, an extremely rare disorder characterized by intellectual disability, seizures, facial dysmorphism and agenesis of corpus callosum. was initially reported to be required for human corpus callosum development. We report the first child who is of Indian origin with developmental and epileptic encephalopathy (DEE) with a unique phenotypic evolution as focal onset reflex seizures. We performed whole exome sequencing of genomic DNA isolated from peripheral blood samples of proband and his parents. Two pathogenic compound heterozygous variants, a start loss variant (Chr12:7053285:c.1A>G) and a premature stop gain variant (Chr12:7053327:c.43C>T), involving the gene were identified in the proband. Our case report which details genotyping in this rare syndromic developmental encephalopathy, with no prior cases reported from India, expands the ethnic spectrum of patients.
已知无终止密码子的开放阅读框变异，如 变异，会导致 Temtamy 综合征，这是一种非常罕见的疾病，其特征为智力障碍、癫痫发作、面部畸形和胼胝体发育不全。 最初被报道对人类胼胝体发育是必需的。我们报告了首例印度裔患有发育性和癫痫性脑病（DEE）的儿童，其独特的表型演变表现为局灶性起始反射性癫痫发作。我们对先证者及其父母外周血样的基因组 DNA 进行了全外显子组测序。在先证者中发现了涉及 基因的起始缺失变异（Chr12:7053285:c.1A>G）和提前终止获得变异（Chr12:7053327:c.43C>T）这两种致病性复合杂合变异。我们的病例报告详细说明了这种罕见的综合征性发育性脑病的基因分型，在印度没有先前报道的病例，扩大了患者的种族范围。
