Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene

Acta Myologica

Volumn 26, Issue OCT., 2007, Pages 108-111

  Kabzinska D ^a   Saifi, G M ^b   Drac, H ^a,c   Rowinska Marcinska K ^a,c   Hausmanowa Petrusewicz, I ^a   Kochański, Andrzej ^a   Lupski, J R ^b,d  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

^d TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

CMT; GDAP1 gene; Genotype phenotype correlations

Indexed keywords

GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ELECTROPHYSIOLOGY; GAIT DISORDER; GENE MAPPING; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; MALE; MOLECULAR GENETICS; MUSCLE ATROPHY; NERVE BIOPSY; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; OTORHINOLARYNGOLOGY; REFSUM DISEASE; SURAL NERVE; VOCAL CORD;

ADULT; AMINO ACID SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; GENOTYPE; GTP PHOSPHOHYDROLASES; HUMANS; LEUCINE; MALE; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; POLAND; PROLINE;

EID: 39449092292     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Vallat JM, Tazir M, Magdelaine C, et al. Autosomal-recessive Charcot-Marie-Tooth diseases. J Neuropathol Exp Neurol 2005;64:363-70.
2. Ben Othmane K, Hentati F, Lennon F, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet 1993;2:1625-8.
3. Baxter RV, Ben Othmane K, Rochelle JM, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002;30:21-2.
4. Cuesta A, Pedrola L, Sevilla T, et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002;30:22-5.
5. Verhoeven K, De Jonghe P, Coen K, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003;72:722-7.
6. Claramunt R, Pedrola L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005;42:358-65.
7. Sevilla T, Cuesta A, Chumillas MJ, et al. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 2003;126:2023-33.
8. Pedrola L, Espert A, Wu X, et al. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 2005;14:1087-94.
9. Niemann A, Ruegg M, La Padula V, et al. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 2005;170:1067-78.
10. Marco A, Cuesta A, Pedrola L, et al. Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. Mol Biol Evol 2004;21:176-87.
11. Grantham R. Amino acid difference formula to help explain protein evolution. Science 1974;185:862-4.
12. Kabzinska D, Kochanski A, Drac H, et al. A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease. J Neurol Sci 2006;241:7-11.
13. Nelis E, Erdem S, Van den Bergh P, et al. Mutations in GDAP1, Autosomal recessive CMT with demyelination and axonopathy. Neurology 2002;59:1865-72.
14. Verhoeven K, Claeys KG, Züchner S, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006;129:2093-102.
15. Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004;36:449-51.