Zelnik Nathanel, Mahajna Muhammad, Iancu Theodore C, Sharony Reuven, Zeigler Marsha
Department of Pediatrics, Carmel Medical Center, and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Pediatr Neurol. 2007 Jun;36(6):411-3. doi: 10.1016/j.pediatrneurol.2007.01.008.
We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene. This patient further expands the clinical varieties of CLN8, initially reported in Finland and Turkey and recently in Italy. The ultrastructural pathology of a skin biopsy specimen revealed abundant typical fingerprint profiles, but rare granular osmiophilic bodies and curvilinear structures. Sequencing of exon 3 of the CLN8 gene revealed a novel C>G missense mutation at a conserved amino acid glutamine 256 to glutamic acid. Our findings further raise the possibility of the existence of a Mediterranean CLN8 variant.
我们报告了以色列首例已知的早发性蜡样脂褐质沉积症患者，该患者为CLN8基因突变的纯合子。该患者进一步扩展了CLN8的临床类型，CLN8最初在芬兰和土耳其报道，最近在意大利也有报道。皮肤活检标本的超微结构病理学显示有大量典型的指纹样结构，但罕见的嗜锇颗粒体和曲线状结构。CLN8基因第3外显子的测序揭示了一个新的C>G错义突变，该突变发生在保守氨基酸谷氨酰胺256位，导致其变为谷氨酸。我们的研究结果进一步增加了地中海CLN8变体存在的可能性。
