Title

Expanded genetic screening panel for the Ashkenazi Jewish population

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

26334176

DOI

10.1038/gim.2015.123

Comments

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