Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.,Molecular Genetics & Genomic Medicine

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Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-22 , DOI: 10.1002/mgg3.1308
Kei Mizobuchi ₁ , Takaaki Hayashi _{1,

2} , Kazutoshi Yoshitake ₃ , Kaoru Fujinami ₄ , Toshiaki Tachibana ₅ , Kazushige Tsunoda ₄ , Takeshi Iwata ₃ , Tadashi Nakano ₁

Affiliation

Biallelic CLN3 gene variants have been found in either juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02‐kb deletion variant homozygously. Clinical characteristics of patients with biallelic CLN3 missense variants are not well elucidated.

中文翻译：

新型纯合子CLN3错义变体在孤立的视网膜营养不良：病例报告和电子显微镜下的发现。

双等位基因CLN3基因变异体已在青少年发作的神经元类脂褐质病（JNCL）或孤立的视网膜营养不良中发现。据报道，大多数JNCL患者纯合地携带着一个常见的1.02-kb缺失变异体。具有双等位基因CLN3错义变体的患者的临床特征尚未得到很好的阐明。

更新日期：2020-05-22

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