Publication Date
2015
Journal Title
Genet Med
Abstract
PURPOSE: Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other conditions for which screening might be offered is unknown. METHODS: Through literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced AJ genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics and Genomics scoring (ACMG) system. Other known mutations were identified through literature review. RESULTS: A panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders. CONCLUSION: Screening for a broader range of disorders not only could further reduce the incidence of autosomal recessive disorders but also could offer the benefits of early or presymptomatic diagnosis.Genet Med advance online publication 03 September 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.123.
Volume Number
18
Issue Number
5
Pages
522-8
Document Type
Article
EPub Date
2015/09/04
Status
Faculty, Northwell Researcher
Facility
School of Medicine; Northwell Health
Primary Department
Psychiatry
Additional Departments
Molecular Medicine
PMID
DOI
10.1038/gim.2015.123