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Prenatal diagnosis of Charcot-Marie-Tooth disease type 1a by multicolorin situ hybridization

✍ Scribed by Lebo, Roger V. ;Martelli, Lucia ;Su, Ying ;Li, Lanying ;Lynch, Eric ;Mansfield, Elaine ;Pua, Kong-Hu ;Watson, Daniel F. ;Chueh, Jane ;Hurko, Orest

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
947 KB
Volume
47
Category
Article
ISSN
0148-7299

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✦ Synopsis

Genetic heterogeneity within the most common genetic neuropathy, Charcot-Marie-Tooth disease (CMT) results in about 70% slow nerve conduction CMTl and 30% normal nerve conduction CMT2. Autosomal dominant CMTlA on chromosome 17~11.2 represents about 70% of CMTl cases and about 50% of al1 CMT cases. Three different size CMTlA duplications with variable flanking breakpoints were characterized by multicolor in siiu hybridization and confirmed by pulsed field gel electrophoresis and quantitative polymerase chain reaction (PCR) amplification. These different size duplications result in the same CMTlA phenotype confirming that trisomy of a normal gene region results in CMTlA. The smallest duplication does not include the 409 locus used previously to screen for CMTlA duplications. Direct analysis of interphase nuclei from fetuses and at-risk patients by multicolor in situ hybridization to a commonly duplicated CMTlA probe is informative more often than polymorphic PCR analysis, faster than pulsed field gel electrophoresis (PFGE), and faster, more informative, and more reliable than restriction enzyme analysis. CMTlB restriction enzyme analysis of CMT pedigrees without CMTlA is expected to diagnose another 8% of at-risk CMTl patients (total: 78%).

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