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  Abstracts: Molecular analysis in Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with liability to pressure palsies (HNPP)  
  September 06, 1995



K.D. Bathke(1,2), D. Lorek(1), T. Liehr(1), A. Ekici(1), E. Nelis(3), C. Van Broeckhoven(3), H. Grehl(2), D. Claus(2), B. Neundörfer(2) and B. Rautenstrauß(1)
(1) lnst. for Human Genetics and (2) Dept. of Neurology, Schwabachanlage 10, 91054 Erlangen, Germany; (3) Neurogenetics Laboratory, Born Bunge Foundation, Dept. of Biochemistry (UIA), Antwerpen, Belgium  

2nd Workshop Neurogenetics in Germany, Munich, October 19-21, 1995

Hereditary moto-sensory neuropathy Ia (HMSNIa, CMTlA) and hereditary neuropathy with liability to pressure palsies (HNPP) are diseases of the peripheral nervous system, caused by a duplication (CMT) or a deletion (HNPP) of 1.5 Mb at chromosomal locus 17p11.2.
27 clinically well characterized patients with CMT1 and 9 patients with HNPP were screened for duplications/deletions. We used probes pVAW409R3a, pVAW4l2Hec and pVAW4OlHE on MspI restricted DNA. 13 CMTlA patients (48%) showed a duplication of 1.5 Mb in chromosome 17p11.2, 8 HNPP patients (89%) showed a reciprocal deletion within this region. The findings were confirmed by flourescence in situ hybridization (FISH) analysis. In CMT1 patients without duplication we performed a mutation screening for point mutations within the candidate genes PMP22-, PO- (1q21.3-q23) and Cx32 (Xq13.1) by SSCP analysis and sequencing. One PO and one Cx32 mutation could be characterized up to now. Recently CMT1 and HNPP patients can be diagnosed by EcoRI/southern hybridization with probe pNEA1O2 (provided by J.R.Lupski). This probe detects 7.8 kb and 6.0 kb EcoRI fragments which are located within repetitive elements flanking the duplication/deletion site in centromeric and telomeric direction. According to our experience probe pNEA102 has a lower rate of non-informative individuals than the probes used before.

Acknowledgement: K.D.B., H.G. and B.R. are supported by the Deutsche Forschungsgemeinschaft, C.V.B. an E.N. are supported by the National Fund for Scientific Research in Belgium

Charcot-Marie-Tooth (CMT)
Hereditary moto-sensory neuropathy Ia (HMSNIa, CMTlA)
Hereditary neuropathy with liability to pressure palsies (HNPP)

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