Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
نویسندگان
چکیده
GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mutation in 8 alleles; c.1622-1627insG and p.Arg59His in 2 alleles (the latter also segregating with c.1233þ8T>C); and p.Phe107Leu, p.Leu173Pro, p.Arg201His, and p.Gly311Arg in 1 allele each. Two mutations (p.Ile354Ser and p.Thr384Ser) and 1 neutral alteration (p.Pro1521⁄4) are described for the first time. All patients presented as compound heterozygotes. A discussion on genotype– phenotype correlation is also presented.
منابع مشابه
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.
We describe 12 subjects of ten unrelated families from the region of Campinas and the southern state of Minas Gerais, Brazil, who presented with juvenile (n = 4) and adult (n = 8) GM1 gangliosidosis. Data includes clinical history, physical examination, and ancillary exam findings. Six subjects presented initially with skeletal deformities, while the remaining six had neurological manifestation...
متن کاملDiagnosis of feline GM1 gangliosidosis by enzyme assay of cultured conjunctival cells.
GM1 gangliosidosis is characterized by a deficiency in the lysosomal hydrolase beta-galactosidase, progressive nervous system disease and ocular lesions. Diagnosis of GM1 gangliosidosis in humans and cats with the analogous disease has been made by measurement of the enzyme activity in various tissues including brain, liver and cultured skin fibroblasts. The authors report the use of cultured c...
متن کامللکه های مغولی و بیماری گانگلیوزیدوزیس نوع 1 (GM1) و مروری بر مقالات
Gangliosidosis GM1, is a lipid storage disorder due to deficiency of the lysosomal enzyme &beta-galactosidase. This deficiency leads to lysosomal accumulation of gangliosidosis GM1 to be, which contributes to swelling, cell damage and dysfunction of the organs. Gangliosidosis GM1a rare neurodegenerative disorder. Mongolian spots are significant clinical sign in some of the metabolic diseases, s...
متن کاملGM1 Gangliosidosis Test
The GM1 Gangliosidosis Test provides a high quality read-out of all exons of GLB1 gene. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and express service TAT 7-10 days). The GM1 Gangliosidosis Test has undergone rigorous validation process...
متن کاملSerial MRI Features of Canine GM1 Gangliosidosis: A Possible Imaging Biomarker for Diagnosis and Progression of the Disease
GM1 gangliosidosis is a fatal neurodegenerative lysosomal storage disease caused by an autosomal recessively inherited deficiency of β-galactosidase activity. Effective therapies need to be developed to treat the disease. In Shiba Inu dogs, one of the canine GM1 gangliosidosis models, neurological signs of the disease, including ataxia, start at approximately 5 months of age and progress until ...
متن کامل