scholarly journals Update on an Asian Indian Family With Apparent Autosomal Recessive Charcot-Marie-Tooth Disease Caused by a Mutation in the HSPB1 Gene

2019 ◽  
Vol 9 (4-5) ◽  
pp. 60-64
Author(s):  
Leema Reddy Peddareddygari ◽  
Kinsi Oberoi ◽  
Raji P. Grewal
Keyword(s):  
Asian Indian ◽  
Autosomal Recessive ◽  
Charcot Marie Tooth ◽  
Indian Family ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C

2018 ◽  
Vol 10 (1) ◽  
pp. 38-44
Author(s):  
Leema Reddy Peddareddygari ◽  
Kinsi Oberoi ◽  
Raji P. Grewal
Keyword(s):  
Genetic Analysis ◽  
Asian Indian ◽  
Autosomal Recessive ◽  
Disease Type ◽  
Sensory Loss ◽  
Tetratricopeptide Repeats ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
In Trans ◽  
Tooth Disease

Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats 2) gene. Interestingly, although mutations in this gene have been observed in European gypsies, a population that originated in India, there are few publications describing Indian patients. We report our analysis of a 50-year-old woman of Asian Indian descent with onset of progressive distal weakness and sensory loss in childhood. A clinical examination revealed the presence of a neuropathy with pes cavus without spinal abnormalities. Electrophysiological testing confirmed a sensorimotor length-dependent neuropathy with demyelinating features. A genetic analysis revealed she carries 2 novel mutations, c.2488G>T variant (rs879254317) and c.731+5G>A variant (rs879254316), in the SH3TC2 gene. Further genetic testing demonstrated that her son is a carrier of the c.731+5G>A mutation. Our analysis confirms that this patient is a compound heterozygote inheriting these mutations, which are in trans, in an autosomal recessive pattern. Her son developed an episode of sciatic neuropathy with complete resolution. We hypothesize that in his case, haploinsufficiency caused by c.731+5G>A mutation may have predisposed him to the development of this focal neuropathy.

Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15

Genomics ◽  
1999 ◽  
Vol 62 (3) ◽  
pp. 344-349 ◽  
Author(s):  
Kamel Ben Othmane ◽  
Ellen Johnson ◽  
Marisa Menold ◽  
Felicia L. Graham ◽  
Mongi Ben Hamida ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Chromosome 11P15 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in theGDAP1Gene

2005 ◽  
Vol 36 (3) ◽  
pp. 206-209 ◽  
Author(s):  
D. Kabzińska ◽  
A. Kochański, ◽  
H. Drac ◽  
B. Ryniewicz ◽  
K. Rowińska-Marcińska ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)

2006 ◽  
Vol 21 (1) ◽  
pp. 20-25 ◽  
Author(s):  
Velina Guergueltcheva ◽  
Ivailo Tournev ◽  
Veneta Bojinova ◽  
Janina Hantke ◽  
Ivan Litvinenko ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3

2001 ◽  
Vol 68 (1) ◽  
pp. 269-274 ◽  
Author(s):  
Alejandro Leal ◽  
Bernal Morera ◽  
Gerardo Del Valle ◽  
Dieter Heuss ◽  
Corinna Kayser ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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