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© 1993 Oxford University Press

RESEARCH-ARTICLE

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

Francisco Palau1, Ann Löfgren2, Peter De Jonghe2,4, Sylvia Bort1,5, Eva Nelis2, Teresa Sevilla5, Jean-Jacques Martin3,4, Juan Vilchez5, Felix Prieto1 and Christine Van Broeckhoven2,*

1Genetics Unit, Hospital Universitaji La Fe Valencia, Spain 2Laboratory of Neurogenetics, Universitertsptein 1 B-2610 Antwerpen 3Laboratory of Neuropathology, Bom Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Universitertsptein 1 B-2610 Antwerpen 4Division of Neurology, Academic Hospital Antwerp Waripcstraat 10, B-2650 Edegem, Belgium 5Neurology Service, Hospital Universitan La Fe and Department of Medicine, University of Vaiencta Valencta, Spain

*To whom correspondence should be addressed

Received July 19, 1993; Revised October 21, 1993; Accepted October 21, 1993

A 1.5 Mb duplication within 17p11.2 is the major mutation causing both autosomal dominant and sporadic Charcot - Marie - Tooth disease type 1A (CMT1A). An Independent origin for the mutation In each family has been postulated. The proposed genetic mechanism causing the CMT1A duplication is unequal nonsister chromatld exchange at melosis (unequal crossing-over). We studied the parental origin of the duplication In nine genetically sporadic CMT1A patients and demonstrated that in all cases the mutation was the product of an unequal nonsister chromatld exchange during spermatogenesis. The fact that only paternal de novo duplications were observed In the sporadic CMT1A patients suggests that male specific factors may be operating during spermatogenesis that either help forming the duplication and/or stabilize the duplicated chromosome.


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