Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling
- PMID: 24233795
- DOI: 10.1007/BF01414603
Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling
Abstract
Genetic counseling for Gaucher disease is complicated by the vast degree of clinical heterogeneity encountered in the disorder. Recent advances in our understanding of the molecular genetics of Gaucher disease are particularly relevant to genetic counseling. Although the identification of mutations in the glucocerebrosidase gene has enabled genotypic screening of Gaucher patients, the ability to reliably predict patient outcome on the basis of DNA studies is often limited. An appreciation of both the spectrum of clinical manifestations in Gaucher patients and the limitations of the available genotypic information is necessary when counseling patients, families and at-risk individuals.
Similar articles
-
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?Hum Mutat. 1994;3(1):25-8. doi: 10.1002/humu.1380030105. Hum Mutat. 1994. PMID: 8118463
-
Recent advances in the diagnosis and management of Gaucher disease.Expert Rev Endocrinol Metab. 2018 Mar;13(2):107-118. doi: 10.1080/17446651.2018.1445524. Epub 2018 Mar 12. Expert Rev Endocrinol Metab. 2018. PMID: 30058864 Free PMC article.
-
Gaucher disease: complexity in a "simple" disorder.Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. doi: 10.1016/j.ymgme.2004.08.015. Mol Genet Metab. 2004. PMID: 15464415 Review.
-
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.Hum Mutat. 2000;15(2):181-8. doi: 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S. Hum Mutat. 2000. PMID: 10649495 Review.
-
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.Blood Cells Mol Dis. 2011 Jan 15;46(1):75-84. doi: 10.1016/j.bcmd.2010.08.012. Epub 2010 Sep 28. Blood Cells Mol Dis. 2011. PMID: 20880730 Free PMC article. Review.
Cited by
-
Gaucher disease in Syrian children: common mutations identification, and clinical futures.Ann Saudi Med. 2015 Mar-Apr;35(2):127-32. doi: 10.5144/0256-4947.2015.127. Ann Saudi Med. 2015. PMID: 26336018 Free PMC article.
References
LinkOut - more resources
Full Text Sources