Novel compound heterozygous mutations causing Kufs disease type B. (3rd June 2018)

• Record Type: Journal Article
• Authors: Wang, Cui; Xu, Hongliang; Yuan, Yun; Lian, Yajun; Xie, Nanchang; Ming, Liang
• Is Part Of: International journal of neuroscience. Volume 128:Number 6(2018)
• Page Start: 573
• Page End: 576
• Publication Date: 2018-06-03
• Subjects: Neuronal ceroid lipofuscinosis -- Kufs disease -- cathepsin-F; Nervous system -- Periodicals; 612.805
• DOI: 10.1080/00207454.2017.1403439
• Languages: English
• ISSNs: 0020-7454

Abstract

ABSTRACT: Background: Kufs disease type B (also termed CLN13), an adult-onset form of neuronal ceroid lipofuscinosis (NCL), is genetically heterogeneous and challenging to diagnose. Recently, mutations in cathepsin-F have been identified as the causative gene for autosomal recessive Kufs disease type B. Results: Here, we report a sporadic case of Kufs disease type B with novel compound heterozygous mutations, a novel missense mutation c.977G>T (p.C326F) and a novel nonsense mutation c.416C>A (p.S139X), in the cathepsin-F gene. The magnetic resonance imaging findings were consistent with those demonstrated in adult neuronal ceroid lipofuscinosis: diffuse cortical atrophy, mild hyperintensity and reduction of the deep white matter on T2-weighted images. A skin biopsy was negative for abnormalities. Conclusions: Altogether, our findings broaden the mutation database in relation to the neuronal ceroid lipofuscinosis, and the clinical diagnosis of Kufs disease type B was confirmed.