BACKGROUND: GNE myopathy is a clinicopathologically distinct distal myopathy with autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of distal myopathy MATERIALS AND METHODS: Over the last 6 years, a total of 54 patients from 48 families were diagnosed to have GNE myopathy based on the clinical and histopathological findings. We have reported on 23 cases earlier and from this cohort 12 patients from 11 families underwent genetic testing for GNE mutation. RESULTS: Nine patients belonging to eight families were confirmed as GNE myopathy by genetic analysis. There were six women and three men. Mean age of onset was 26.7 ± 5.47 years (20-36 years) and mean age at clinical examination was 32.3 ± 4.2 years (28-39 years). Mean duration of the illness was 5.7 ± 4.7 years (1-14 years). All had characteristic clinical features of progressive weakness and wasting of the anterior part of leg muscles, adductors of thighs and hamstrings with relative sparing of the quadriceps muscles. Biopsy from the tibialis anterior muscles revealed the presence of rimmed vacuoles. Mutation analysis of the GNE gene revealed that c. 2086G > A (p.Val696Met) change was common in our series like Thailand and six of eight families carried this mutation, heterozygously. CONCLUSION: These results show the presence of a common mutation in GNE gene in Southeast Asia.
BACKGROUND:GNEmyopathy is a clinicopathologically distinct distal myopathy with autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of distal myopathy MATERIALS AND METHODS: Over the last 6 years, a total of 54 patients from 48 families were diagnosed to have GNEmyopathy based on the clinical and histopathological findings. We have reported on 23 cases earlier and from this cohort 12 patients from 11 families underwent genetic testing for GNE mutation. RESULTS: Nine patients belonging to eight families were confirmed as GNEmyopathy by genetic analysis. There were six women and three men. Mean age of onset was 26.7 ± 5.47 years (20-36 years) and mean age at clinical examination was 32.3 ± 4.2 years (28-39 years). Mean duration of the illness was 5.7 ± 4.7 years (1-14 years). All had characteristic clinical features of progressive weakness and wasting of the anterior part of leg muscles, adductors of thighs and hamstrings with relative sparing of the quadriceps muscles. Biopsy from the tibialis anterior muscles revealed the presence of rimmed vacuoles. Mutation analysis of the GNE gene revealed that c. 2086G > A (p.Val696Met) change was common in our series like Thailand and six of eight families carried this mutation, heterozygously. CONCLUSION: These results show the presence of a common mutation in GNE gene in Southeast Asia.
Authors: Frank V Celeste; Thierry Vilboux; Carla Ciccone; John Karl de Dios; May Christine V Malicdan; Petcharat Leoyklang; John C McKew; William A Gahl; Nuria Carrillo-Carrasco; Marjan Huizing Journal: Hum Mutat Date: 2014-08 Impact factor: 4.878
Authors: Jennifer Garland; Joshi Stephen; Bradley Class; Angela Gruber; Carla Ciccone; Aaron Poliak; Christina P Hayes; Vandana Singhal; Christina Slota; John Perreault; Ralitza Gavrilova; Joseph A Shrader; Prashant Chittiboina; Galen Joe; John Heiss; William A Gahl; Marjan Huizing; Nuria Carrillo; May Christine V Malicdan Journal: Mol Genet Genomic Med Date: 2017-06-14 Impact factor: 2.183