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Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic

Lookup NU author(s): Dr Peter Cleland

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Abstract

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.

Publication metadata

Author(s): Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2003

Volume: 61

Issue: 10

Pages: 1423-1426

ISSN (print): 0028-3878

ISSN (electronic):

Publisher: Lippincott Williams & Wilkins

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