Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

Single-strand conformational polymorphisms (SSCP) of the connexin32 gene were analyzed in 121 patients possibly affected by Charcot-Marie-Tooth (CMT) disease. The 121 patients were selected from 443 possible CMT/HNPP (hereditary neuropathy with liability to pressure palsies) patients based on geneti...

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Bibliographic Details
Published in:	Human genetics Vol. 99; no. 4; pp. 501 - 505
Main Authors:	KEMP, E. A. M. J. S, HENSELS, G. W, SIE, O. G, DE DIE-SMULDERS, C. E. M, HOOGENDIJK, J. E, DE VISSER, M, BOLHUIS, P. A
Format:	Journal Article
Language:	English
Published:	Heidelberg Springer 01-04-1997 Berlin New York, NY
Subjects:	Adult Aged Aged, 80 and over Biological and medical sciences Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - physiopathology Connexins - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Gap Junction beta-1 Protein Genes, Dominant Humans Male Medical sciences Middle Aged Neurology Peripheral Nervous System Diseases - genetics Point Mutation X Chromosome Human Sex linked character Neuromuscular diseases Nervous system diseases Gap junction Genetic disease Connexin Gene Charcot Marie Tooth disease Central nervous system disease Genetics Degenerative disease X-Chromosome Mutation Spinal cord disease
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Summary:	Single-strand conformational polymorphisms (SSCP) of the connexin32 gene were analyzed in 121 patients possibly affected by Charcot-Marie-Tooth (CMT) disease. The 121 patients were selected from 443 possible CMT/HNPP (hereditary neuropathy with liability to pressure palsies) patients based on genetic linkage to Xq13.1, absence of the 17p12 duplication and deletion, and absence of point mutations in PMP22 and P0. We found five new mutations at nucleotides 105 (C-T), 316 (C-G), 321 (C-T), 328 (T-C), and 657 (G-C), and three mutations at nucleotide 126 (C-T), 249 (G-A), and 477 (G-A) previously described in other unrelated families. The nucleotide changes resulted in seven amino-acid substitutions and one premature stop codon.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0340-6717 1432-1203
DOI:	10.1007/s004390050396