Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

Kaback, Michael M.

doi:10.1001/jama.270.19.2307

Cited by 94 publications

(89 citation statements)

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“…Similarly, Gaucher disease is also one of the most common genetic disorders in Ashkenazi Jews, with a frequency of 1 in 855 live births (Staretz-Chacham et al 2009). In the Ashkenazi Jews, 94-98 % patients with Tay-Sachs disease have three common mutations: c.1277_1278 insTATC, c.1421+1G>C, and c.805 G>A (p.G269S) (Myerowitz and Costigan 1988;Kaback et al 1993), while a 7.6 kb deletion is the major mutation causing Tay-Sachs disease in the French Canadian population (Myerowitz and Hogikyan 1986).…”

Section: Introductionmentioning

confidence: 99%

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

et al. 2013

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Lysosomal storage disorders (LSDs) are considered to be a rare metabolic disease for the national health forum, clinicians, and scientists. This study aimed to know the prevalence of different LSDs, their geographical variation, and burden on the society. It included 1,110 children from January 2002 to December 2012, having coarse facial features, hepatomegaly or hepatosplenomegaly, skeletal dysplasia, neuroregression, leukodystrophy, developmental delay, cerebral-cerebellar atrophy, and abnormal ophthalmic findings. All subjects were screened for I-cell disease, glycolipid storage disorders (NiemannPick disease A/B, Gaucher), and mucopolysaccharide disorders followed by confirmatory lysosomal enzymes study from leucocytes and/or fibroblasts. Niemann-Pick disease-C (NPC) was confirmed by fibroblasts study using filipin stain. Various storage disorders were detected in 387 children (34.8 %) with highest prevalence of glycolipid storage disorders in 48 %, followed by mucopolysaccharide disorders in 22 % and defective sulfatide degradation in 14 % of the children. Less common defects were glycogen degradation defect and protein degradation defect in 5 % each, lysosomal trafficking protein defect in 4 %, and transport defect in 3 % of the patients. This study demonstrates higher incidence of Gaucher disease (16 %) followed by GM2 gangliosidosis that includes Tay-Sachs disease (10 %) and Sandhoff disease (7.8 %) and mucopolysaccharide disorders among all LSDs. Nearly 30 % of the affected children were born to consanguineous parents and this was higher (72 %) in children with Batten disease. Our study also demonstrates two common mutations c.1277_1278insTATC in 14.28 % (4/28) and c.964G>T (p.D322Y) in 10.7 % (3/28) for Tay-Sachs disease in addition to the earlier reported c.1385A>T (p.E462V) mutation in 21.42 % (6/28).

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Section: Introductionmentioning

confidence: 99%

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

et al. 2013

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“…Because the genetic trait for Tay-Sachs disease is highly frequent among Jewish Ashkenazi groups (heterozygote frequency, 1:28) (8) and in French Canadian populations (heterozygote frequency, 1:66) (9), a screening program for the detection of heterozygotic subjects has been successfully implemented (10). This strategy has drastically decreased the incidence of this severe neurodegenerative disorder.…”

Section: Introductionmentioning

confidence: 99%

Serum hexosaminidase and ß-glucuronidase activities in infants: effects of age and sex

Mabe

Beck

2003

Braz J Med Biol Res

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We investigated the effect of age and sex on the serum activity of hexosaminidase (HEX) and ß-glucuronidase (BGLU) in 275 normal term infants aged 12 h to 12 months. Up to six weeks of life, HEX was significantly higher in boys (P£0.023). During the age period of 1-26 weeks, BGLU was also higher in boys, but differences were significant only at 2-6 and 7-15 weeks (P£0.016). The developmental pattern of HEX and BGLU was sex dependent. HEX activity increased in both sexes from 4-7 days of life, reaching a maximum of 1.4-fold the birth value at 2-6 weeks of age in boys (P<0.001) and a maximum of 1.6-fold at 7-15 weeks in girls (P<0.001). HEX activity gradually decreased thereafter, reaching significantly lower levels at 27-53 weeks than during the first three days of life in boys (P = 0.002) and the same level of this age interval in girls. BGLU increased in both sexes from 4-7 days of age, showing a maximum increase at 7-15 weeks (3.3-fold in boys and 2.9-fold in girls, both P<0.001). Then BGLU decreased in boys to a value similar to that observed at 4-7 days of age. In girls, BGLU remained elevated until the end of the first year of life. These results indicate a variation of HEX and BGLU activities during the first year of life and a sex influence on their developmental pattern. This observation should be considered in the diagnosis of GM 2 gangliosidosis and mucopolysaccharidosis type VII.

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“…3 In the Ashkenazi Jewish population, three 'founder' mutations account for 98% of all the mutant alleles. 12,13 These include a fourbase duplication c.1274_1277dupTATC (81%), the splicing mutation c.1421+1G4C (IVS12+1G4C; 15%) and a later-onset mutation c.805G4A (p.G269S; 2%). 6,12 In contrast, the major mutations in non-Jewish populations include the duplication c.1274_1277dup-TATC and the missense mutation G269S that only occur at frequencies of 30 and 5%, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…6,12 In contrast, the major mutations in non-Jewish populations include the duplication c.1274_1277dup-TATC and the missense mutation G269S that only occur at frequencies of 30 and 5%, respectively. 13 As there is no effective treatment for TSD, current efforts are focused on screening populations to identify disease at-risk carrier couples, 14 and then offering prenatal diagnosis. Identification of mutations in the Persian population will have direct application to this effort.…”

Section: Discussionmentioning

confidence: 99%

Identification of two HEXA mutations causing infantile-onset Tay–Sachs disease in the Persian population

et al. 2011

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Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

Cited by 94 publications

References 0 publications

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

Serum hexosaminidase and ß-glucuronidase activities in infants: effects of age and sex

Identification of two HEXA mutations causing infantile-onset Tay–Sachs disease in the Persian population

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