Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Sep;125(1-2):1-3.
doi: 10.1016/j.ymgme.2018.06.013. Epub 2018 Jun 28.

Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease

Shahzeb Hassan  1 , Grisel Lopez  1 , Barbara K Stubblefield  1 , Nahid Tayebi  1 , Ellen Sidransky  2
Affiliations

Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease

Shahzeb Hassan et al. Mol Genet Metab. 2018 Sep.

Abstract

Autosomal resessive Mendelian disorders usually result from two inherited disease-causing mutations. However, this is not always the case. Focusing on Gaucher disease, which results from mutations in GBA1, we found that more comprehensive genotyping revealed important exceptions. For example, patients with uniparental disomy or new mutations do not inherit a mutation from each parent. Furthermore, we identified patients found to carry more than one GBA1 mutation on the same allele. It is essential to examine the entire GBA1 gene in order to establish an accurate genotype. Missing the second mutation can complicate genotype/phenotype studies and result in improper genetic counseling.

Keywords: Gaucher disease; Genotype/phenotype correlation; Glucocerebrosidase; Sequencing.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Parkin JL, Brunning RD Pathology of the Gaucher cell, Prog. Clin. Biol. Res. 95 (1982) 151–175. - PubMed
    1. Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, et al., The risk of Parkinson’s disease in type 1 Gaucher disease, J. Inherit. Metab. Dis. 33 (2010) 167–173, 10.1007/sl0545-010-9055-0. - DOI - PMC - PubMed
    1. Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E, Gaucher disease: progress and ongoing challenges, Mol. Genet. Metab. 120 (2017) 8–21, http://dx.doi.Org/10.1016/j.ymgme.2016.11.006. - DOI - PMC - PubMed
    1. Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, et al., A review of Gaucher disease pathophysiology, clinical presentation and treatments, Int. J. Mol. Sci 18 (2017), 10.3390/ijms18020441. - DOI - PMC - PubMed
    1. Hruska KS, Lamarca ME, Scott CR, Sidransky E, Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA), Hum. Mutat. 29 (2008) 567–583, 10.1002/humu.20676. - DOI - PubMed

Publication types

Substances