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Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
- Source :
-
The International journal of neuroscience [Int J Neurosci] 2018 Dec; Vol. 128 (12), pp. 1109-1113. Date of Electronic Publication: 2018 Aug 15. - Publication Year :
- 2018
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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.<br />Materials and Methods: We performed clinical and radiographic investigations, and diagnosed this disease at the clinical and genetic levels.<br />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&#95;001324191) and c.405dupC (NM&#95;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.<br />Conclusion: we reported a patient presenting with atypical PKAN, and identified novel compound heterozygous PANK2 gene mutations..
Details
- Language :
- English
- ISSN :
- 1563-5279
- Volume :
- 128
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- The International journal of neuroscience
- Publication Type :
- Academic Journal
- Accession number :
- 29962256
- Full Text :
- https://doi.org/10.1080/00207454.2018.1483364