Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene

• Published in: Neuropediatrics Vol. 36; no. 3; p. 206
• Main Authors: Kabzińska, D, Kochański, A, Drac, H, Ryniewicz, B, Rowińska-Marcińska, K, Hausmanowa-Petrusewicz, I
• Format: Journal Article
• Language: English
• Published: Germany 01-06-2005
• Subjects: Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - pathology; Charcot-Marie-Tooth Disease - physiopathology; Child; Humans; Male; Median Nerve - pathology; Median Nerve - physiopathology; Mutation - genetics; Nerve Tissue Proteins - genetics; Neural Conduction - physiology; Peroneal Nerve - pathology; Peroneal Nerve - physiopathology; RNA Splice Sites - genetics; Sural Nerve - pathology; Sural Nerve - physiopathology
• ISSN: 0174-304X
• DOI: 10.1055/s-2005-865606

A recessive demyelinating subtype of Charcot-Marie-Tooth disease called CMT4 is a heterogeneous group of disorders. A relatively frequent form of recessive CMT (CMT4 A) has been mapped to the chromosome 8 q21 and shown to be caused by mutations in the ganglioside-induced differentiation protein 1 (GDAP1) gene. Twenty mutations in the GDAP1 gene have been reported in patients suffering from the axonal and demyelinating forms of CMT disease. In this study we report two novel mutations in the GDAP1 gene in a patient suffering from CMT2 disease and whose parents were asymptomatic carriers of a Ser130Cys and 3'-splice site (311-1G > A) mutation, respectively.