Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) who has two compound heterozygote mutations of the PANK2 gene. IVS4-1 G>T segregates with the lipid and erythrocyte changes in the mother and sister. No other family members have the lipid, erythrocyte, or clinical abnormalities. The father and two brothers are heterozygous for Met327Thr. One other mutation has been found in this PANK2 region associated with the HARP phenotype, suggesting a local genotype effect.
Houlden
H
H
Department of Neurology, Royal Free Hospital, London, UK.
Lincoln
S
S
Farrer
M
M
Cleland
P G
PG
Hardy
J
J
Orrell
R W
RW
D000050:Acanthocytes / Q000473:pathology; D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D005917:Globus Pallidus / Q000473:pathology; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D007009:Hypolipoproteinemias / Q000235:genetics; D008079:Lipoproteins, VLDL / Q000097:blood; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics; D013577:Syndrome
D008079:Lipoproteins, VLDL; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase