Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.

Child neurology open Pub Date : 2022-11-15 eCollection Date: 2022-01-01 DOI:10.1177/2329048X221139495

Siddiqa Ozaal, Subashinie Jayasena, Surani Jayakody, Sabine Schröder, Anura Jayawardana, Eresha Jasinge

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引用次数: 1

Abstract

Infantile Sandhoff Disease (iSD) is a subtype of GM2 gangliosidosis, which is never been reported in Sri Lanka. Data of eight children, who were diagnosed with iSD during the period of 2017 to 2021, were analyzed retrospectively. The aim of this study was to analyze genotypic and phenotypic variations of native iSDs. Café-au-lait spots, mitral regurgitation and atrial septal defect were found in our patients but never reported in the literature. We found c.1417 + 5G>A and c.1303_1304insCT p.(Arg435Thrfs*10) novel variants of HEXB gene among the nine different gene mutations that were identified. The commonest HEXB gene variant identified in India was c.850 C4T (p.R284X) but was not noticed among Sri Lankan patients. In contrast to other studies, all our patients died within the age of two years. This is the first Sri Lankan study that expands the clinical and molecular basis of iSD with its novel findings.

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斯里兰卡婴儿桑德霍夫病患者的临床表现和遗传异质性包括两种新变异

婴儿Sandhoff病(iSD)是GM2神经节脂质沉积症的一种亚型，在斯里兰卡从未报道过。回顾性分析2017年至2021年期间诊断为iSD的8例儿童的数据。本研究的目的是分析本地iSDs的基因型和表型变异。在我们的患者中发现了卡萨梅-奥-劳斑，二尖瓣反流和房间隔缺损，但从未在文献中报道过。在鉴定的9个不同的基因突变中，我们发现了c.1417 + 5G>A和c.1303_1304insCT p.(Arg435Thrfs*10)新的HEXB基因变异。在印度发现的最常见的HEXB基因变异是c.850C4T (p.R284X)，但在斯里兰卡患者中未被发现。与其他研究相反，我们所有的患者都在两岁内死亡。这是斯里兰卡第一个以其新发现扩展iSD临床和分子基础的研究。

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Child neurology open

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15 weeks