Heterozygosity for Tay-Sachs and Sandhoff Diseases among Massachusetts Residents with French Canadian Background

Prence, Elizabeth M.; Jerome, Cheryl A.; Triggs-Raine, Barbara L.; Natowicz, Marvin R.

doi:10.1177/096914139700400304

Cited by 13 publications

(7 citation statements)

References 15 publications

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“…Individuals who were pregnant, had both Ashkenazi Jewish and French Canadian heritage, or indicated that they had a relative who was a carrier for or had TSD, were excluded from the study. The questionnaire used to identify appropriate study participants was previously published (8 ).…”

Section: Materials and Methods Samplesmentioning

confidence: 99%

“…The percentages of serum HEXA activity used to identify heterozygotes and non-carriers for TSD were as reported previously (8 ). The diagnostic criteria for serum HEXA used to establish a diagnosis of heterozygosity and non-carrier status for TSD were: carrier, Յ55% HEXA and non-carrier, Ն61% HEXA.…”

Section: Enzyme Analysismentioning

confidence: 99%

“…In the case of Irish Americans, such analyses lowered the carrier frequency from 1:25 to a maximum of 1:41 (11 ). In preliminary studies of Franco-Americans living in Massachusetts (MA), accounting for benign mutations reduced the risk from 1:57 to 1:66 (8 ).…”

mentioning

confidence: 99%

“…Subsequently, an increased prevalence of TSD was discovered for individuals of Moroccan Jewish, Pennsylvania Dutch, and Southern Louisiana Cajun backgrounds (5)(6)(7). These assays also led to the recognition of increased TSD carrier frequencies among Franco-Americans living in New England (8,9 ), Iraqi Jews (10 ), and Irish Americans (11 ).…”

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confidence: 99%

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Evaluation of the Risk for Tay-Sachs Disease in Individuals of French Canadian Ancestry Living in New England

2007

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England is an important health issue. In preliminary studies of the enzyme-defined carrier frequency for TSD among Franco-Americans in New England, we found frequencies (1:53) higher than predicted from the incidence of infantile TSD in this region. We have now further evaluated the risk for TSD in the Franco-American population of New England. Methods: Using a fluorescence-based assay for ␤-hexosaminidase activity, we determined the carrier frequencies for TSD in 2783 Franco-Americans. DNA analysis was used to identify mutations causing enzyme deficiency in TSD carriers. Results: We determined the enzyme-defined carrier frequency for TSD as 1:65 (95% confidence interval 1:49 to 1:90). DNA-based analysis of 24 of the enzymedefined carriers revealed 21 with sequence changes: 9 disease-causing, 4 benign, and 8 of unknown significance. Six of the unknowns were identified as c.748G>A p.G250S, a mutation we show by expression analysis to behave similarly to the previously described c.805G>A p.G269S adult-onset TSD mutation. This putative adult-onset TSD c.748G>A p.G250S mutation has a population frequency similar to the common 7.6 kb deletion mutation that occurs in persons of French Canadian ancestry.

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Section: Materials and Methods Samplesmentioning

confidence: 99%

Section: Enzyme Analysismentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Evaluation of the Risk for Tay-Sachs Disease in Individuals of French Canadian Ancestry Living in New England

2007

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“…Natowicz, 1997). A recruitment bias may have been present as the individuals tested were volunteers.…”

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confidence: 99%

The incidence and carrier frequency of Tay‐Sachs disease in the French‐Canadian population of Quebec based on retrospective data from 24 years, 1992–2015

Sillon

Allard

Drury

et al. 2020

Journal of Genetic Counseling

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Tay-Sachs disease (TSD) is an autosomal recessive neurodegenerative disorder. It results from pathogenic variants in the HEXA gene that lead to deficient activity of the lysosomal β-hexosaminidase A enzyme (HEXA). HEXA consists of an α and a β subunit, encoded by the HEXA and the HEXB gene, respectively. When a patient is homozygous for a HEXA pathogenic variant, GM2 gangliosides are not hydrolyzed, accumulate in neuronal lysosomes and trigger progressive neuronal dysfunction, which begins around 2-6 months of age for infantile TSD and leads to complete disability and death, usually by 3-5 years of age (Gravel et al., 2001; Kaback & Desnick, 2001; Sutton, 2002). A diagnosis of infantile TSD is usually made before a child's third birthday on the basis of absent or significantly reduced level of HEXA activity measured through biochemical testing (Kaback & Desnick, 2001). Molecular analysis can confirm

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Genetic Counseling: Preconception, Prenatal, and Perinatal

Milunsky¹,

Milunsky²

2015

Genetic Disorders and the Fetus

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Heterozygosity for Tay-Sachs and Sandhoff Diseases among Massachusetts Residents with French Canadian Background

Cited by 13 publications

References 15 publications

Evaluation of the Risk for Tay-Sachs Disease in Individuals of French Canadian Ancestry Living in New England

Evaluation of the Risk for Tay-Sachs Disease in Individuals of French Canadian Ancestry Living in New England

The incidence and carrier frequency of Tay‐Sachs disease in the French‐Canadian population of Quebec based on retrospective data from 24 years, 1992–2015

Genetic Counseling: Preconception, Prenatal, and Perinatal

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