Mutation analysis of an Ashkenazi Jewish family with gaucher disease in three successive generations

Kolodny, Edwin H.; Firon, Nurit; Eyal, Nurit; Horowitz, Mia

doi:10.1002/ajmg.1320360419

Cited by 10 publications

(4 citation statements)

References 15 publications

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“…Finally, physicians should seek a comprehensive family history, including information about ethnicity and consanguinity, and history of any symptoms of Gaucher disease in parents, siblings, or relatives. 27 All children should receive a thorough history and physical examination at least every six to 12 months. Evaluation of linear growth and weight gain using standard growth charts and midparental heights is extremely important.…”

Section: Medical History and Physical Evaluationmentioning

confidence: 99%

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Charrow¹,

Andersson²,

Kaplan³

et al. 2004

The Journal of Pediatrics

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104

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Section: Medical History and Physical Evaluationmentioning

confidence: 99%

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Charrow¹,

Andersson²,

Kaplan³

et al. 2004

The Journal of Pediatrics

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104

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“…Multigenerational GD has been reported in two separate Lebanese families [18,19], but in both families, there was a high degree of consanguinity. Kolodny et al [20] reported an Ashkenazi Jewish family with three generations of GD; there was no mention of consanguinity, but there was compound heterozygosity in three of the individuals. There was also no mention of malignancy in any of the patients.…”

Section: Discussionmentioning

confidence: 99%

Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening

Hannah‐Shmouni

Amato

2019

Molecular Genetics and Metabolism Reports

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Gaucher disease (GD) is one of the commonest lysosomal storage diseases that is inherited in an autosomal recessive manner and affects 1 in 50,000 to 100,000 people in the general population. The frequency is much higher (1 in 500 to 1000) in people of Ashkenazi Jewish heritage due to a founder effect. GD is caused by decreased or absent activity of β-glucosidase with subsequent accumulation of the substrate glucosylceramide in macrophages due to genetic alterations in the GBA gene. These often accumulate in the spleen, liver and bone marrow. Three types exist, with type 1 being the most common, also referred to as non-neuronopathic GD. A broad clinical spectrum exists; patients of any age may manifest with hepatosplenomegaly, anaemia, thrombocytopenia, lung disease, bone abnormalities or may remain asymptomatic throughout their lifespan. Multi-generational disease does not usually occur because the risk of disease with each pregnancy, presuming both parents are carriers of the condition, is 25%. Herein, we report an Ashkenazi Jewish family with multi-generational GD type 1 and multigenerational colon cancer in the same three individuals, and reinforce the importance of cascade screening in families with genetic conditions.

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“…DNA was prepared from tissue culture cells as described by Firon et al (1990) and from blood cells as described by Kolodny et al (1990). Cytoplasmic RNA was prepared according to the procedure of Reiner et al (1987).…”

Section: Methodsmentioning

confidence: 99%

Three unique base pair changes in a family with Gaucher disease

et al. 1991

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Single-stranded cDNA was prepared from RNA obtained from a patient with type 1 Gaucher disease. The cDNA was amplified in vitro and analyzed by sequencing. Three base-pair changes were identified which included a G to C transversion at nucleotide 3119 of the active gene (Asp140----His), an A to C transversion at nucleotide 3170 (Lys157----Gln) and a G to A change at nucleotide 5309 (Glu326----Lys). To study the mode of inheritance of the three different base-pair changes, genomic DNA was prepared from blood or skin fibroblasts of several family members. Genomic glucocerebrosidase DNA sequences were amplified and subjected to hybridization with allele-specific oligonucleotides (ASOs). The hybridization profiles demonstrated that two of the base-pair changes originated from the mother and were transmitted to her two affected sons and to a grandchild, while the third base-pair change, originating from the father, was transmitted to his two affected sons, a carrier daughter and a second grandchild. Tests of other patients with Gaucher disease failed to disclose the presence of the three base-changes. This is a unique family with three base-pair changes tightly linked to Gaucher disease.

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Mutation analysis of an Ashkenazi Jewish family with gaucher disease in three successive generations

Cited by 10 publications

References 15 publications

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening

Three unique base pair changes in a family with Gaucher disease

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