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© 1995 Oxford University Press

RESEARCH-ARTICLE

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family

Nathalie Nadal, Marie-Odile Rolland1, Christine Tranchant2, Laurence Reutenauer, Gabor Gyapay3, Jean-Marie Warter2, Jean-Louis Mandel and Michel Koenig*

Institut de Génétique et de Biologie Moléculaire et Cellulaire , CNRS-INSERM-ULP, Illkirch Centre Hospilalier Universitaire Strasbourg 1Service de Biochimie Hôpital Debrousse, Lyon 2Service des Maladies du Système Nerveux et du Muscle, Centre Hospitalier Universitaire Strasbourg 3 Généthon, 1 de l'lntemationale, Evry, France

*To whom correspondence should be addressed

Received May 11, 1995; Revised July 5, 1995; Accepted July 5, 1995

Adult Refsum disease (ARD) is a rare autosomal recessive neurologic disorder associated with the accumulation in blood and tissues of phytanic acid, a natural compound of exogenous origin whose catabolism is impaired in patients. We present here genome wide linkage analysis of an atypical Retsum disease family where L-pipecolic acid level in blood was also increased, suggesting that the patients suffer from a new peroxisomal disorder intermediate between ARD and Infantile Retsum Disease (IRD, a peroxisomal deficiency disease). We were able to demonstrate significant linkage (lod score = 3.6) between Refsum Disease with Increased Pipecolic Acidaemia (RDPA) and the interval defined by D10S249 and D10S466 on 10p in this single consan guineous family by combining lod score values obtained from analysis of the multiple affected sibs, haplotype homozygosity and from discrimination between healthy carriers and non carriers based on phytanate oxidase measurements. This Illustrates the power of homozygosity mapping with a dense map of microsatellite markers. A similar strategy will allow testing for homogeneity/heterogeneity between RDPA and ARD or the rare complementation groups of IRD.


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