Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family.
Pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia. The disease presents with dystonia, rigidity, and gait impairment, leading to restriction of activities and loss of ambulation. The disorder is caused by defective iron metabolism associated with mutations in the PANK2 gene, which codes for the pantothenate kinase enzyme. We report on a mutation screen conducted in two siblings to establish a molecular diagnosis of the disease and a genetic test for the family.
Saleheen
Danish
D
Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan. ds436@medschl.cam.ac.uk
Ali
Tuba
T
Aly
Zarmeneh
Z
Khealani
Bhojo
B
Frossard
Philippe M
PM
D000293:Adolescent; D019943:Amino Acid Substitution; D001479:Basal Ganglia / Q000378:metabolism*; D002648:Child; D003545:Cysteine; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008297:Male; D009154:Mutation; D009410:Nerve Degeneration / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D010154:Pakistan; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D014443:Tyrosine
D014443:Tyrosine; D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D003545:Cysteine