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NEUROLOGY 1993;43:1010
© 1993 American Academy of Neurology

Allelic heterogeneity in hereditary motor and sensory neuropathy type la (Charcot-Marie-Tooth disease type 1a)

J. E. Hoogendijk, MD, E.A.M. Janssen, A. A.W.M. Gabreëls-Festen, MD, G. W. Hensels, E. M.G. Joosten, MD, F. J.M. Gabreëls, PhD, I. Zorn, L. J. Valentijn, F. Baas, PhD, B. W. Ongerboer de Visser, MD, M. de Visser, MD and P. A. Bolhuis, PhD

Department of Neurology (Drs. Hoogendijk, Baas, Ongerboer de Visser, de Visser, and Bolhuis, and EAM Janssen, GW Hensels, I Zorn, and LJ Valentijn), Academic Medical Center, Amsterdam; and the Institute of Neurology (Drs. Gabreëls-Festen, Joosten, and Gabreels), University Hospital Nijmegen, Nijmegen, The Netherlands.

The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe features of HMSN I, and demonstrated the absence of this duplication by a quantitative analysis of the hybridization signals of VAW409R3 and VAW412R3. Linkage analysis, however, revealed linkage with probe VAW409R3a (lod score, 3.22), which demonstrates the existence of allelic heterogeneity within the HMSN la locus. These findings have implications for clinical practice and for investigating the identity of the HMSN Ia gene.

Address correspondence and reprint requests to Dr. J.E. Hoogendijk, Department of Neurology, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

Supported by the Prinses Beatrix Fonds. F.B. is a fellow of the Netherlands Organization for Scientific Research (NWO).

Received March 13, 1992. Accepted for publication in final form September 14, 1992.

*Deceased.




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