Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

Abstract

Aim: Pantothenate-kinase-associated neurodegeneration (PKAN), which is characterised by iron accumulation in the basal ganglia, is a rare autosomal recessive neurodegenerative disorder caused by pantothenate kinase 2 (PANK2) gene mutations. The PANK2 gene is located on chromosome 20p13 and encodes pantothenate kinase. Herein, we identified one patient with PKAN who had mutations in the PANK2 gene.

Materials and methods: We performed clinical and radiographic investigations, and diagnosed this disease at the clinical and genetic levels.

Results: It is worth mentioning that the patient displayed an eye-of-the-tiger sign. Through scanning the exons and flanking intronic sequences of PANK2 in patient and control subjects, we report a compound heterozygote c. 260A > G (NM_001324191) and c.405dupC (NM_153638) for PANK2 mutations in a Chinese patient with clinical manifestation of progressive prosopospasm, dysarthria and gait disturbance. Bioinformatics analysis showed that two variants exhibited highly conserved residues across species.

Conclusion: we reported a patient presenting with atypical PKAN, and identified novel compound heterozygous PANK2 gene mutations..

Keywords:

• Pantothenate-kinase-associated neurodegeneration (PKAN)
• PANK2 mutations
• eye-of-the-tiger sign

Acknowledgements

The authors thank the participants for consenting to participate in this study.

Disclosure statement

No conflict of interest.

Additional information

Funding

This work was supported by the National Natural Science Foundation of China to Dr. Yu-ming Xu [grant numbers 81530037, 81471158]; the National Natural Science Foundation of China to Dr. Chang-he Shi [grant number U1404311]; the Medical Science and Technique Foundation of Henan Province to Yu-tao Liu [grant number 201503038]; the Key Scientific Research Projects of Universities in Henan Province to Yu-tao Liu [grant number 16A320052].