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Novel compound heterozygous mutations causing Kufs disease type B.

Cui Wang^1,2, Hongliang Xu³, Yun Yuan⁴

¹a Department of Clinical Laboratory , The First Affiliated Hospital of Zhengzhou University , Zhengzhou , China.

The International Journal of Neuroscience

|November 10, 2017

Summary

This study identifies novel mutations in the cathepsin-F gene causing Kufs disease type B, a rare adult-onset neurological disorder. These findings expand the genetic understanding of neuronal ceroid lipofuscinosis.

Keywords:

Kufs disease Neuronal ceroid lipofuscinosis cathepsin-F

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Area of Science:

Neuroscience
Genetics
Biochemistry

Background:

Kufs disease type B (CLN13) is a rare, adult-onset neurodegenerative disorder.
It is genetically heterogeneous and difficult to diagnose.
Mutations in the cathepsin-F gene are known causes of autosomal recessive Kufs disease type B.

Observation:

A sporadic case of Kufs disease type B was investigated.
Novel compound heterozygous mutations (c.977G>T and c.416C>A) in the cathepsin-F gene were identified.
MRI revealed diffuse cortical atrophy and white matter changes typical of adult NCL; skin biopsy was normal.

Findings:

The identified mutations, p.C326F (missense) and p.S139X (nonsense), are novel.
These genetic findings confirm the diagnosis of Kufs disease type B in this patient.
The study expands the known spectrum of cathepsin-F mutations associated with the disease.

Implications:

Broadens the mutation database for neuronal ceroid lipofuscinosis.
Aids in the genetic diagnosis of Kufs disease type B.
Contributes to understanding the genetic basis of adult-onset NCL.