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Abstract

Grant Number:	5R44DC004902-03
PI Name:	NAYLOR, EDWIN W.
PI Email:	ednaylor@neogenscreening.com
PI Title:
Project Title:	Newborn Screening for Hearing Impairment

Abstract: DESCRIPTION: (Adapted from applicant's abstract): The feasibility of screening borns for hearing impairmflent in an assay paralleling routine metabolic screening will be demonstrated. Hearing loss owing to heredity factors and cytomegalovirus are analyzed. DNA from the universally collected newborn filter paper blood card serves as the source of nucleic acids to perform the assay. Several target sequences in the cytomegalovirus genome will be evaluated for their utility to identify viral DNA in the newborn specimen. The following mutations in connexin 26, Pendrin, and connexin 31 genes serve as model systems for hereditary hearing loss: (1) connexin 26 35 del G, 167 del T, .Usher2A 23l4delG; (2) Pendrin L236S, T416P; Mitochondrial A1555G. Amplicons that are diagnostic for CMV DNA and the described mutations are analyzed using a low-density oligonucleotide inicroarray in a multiplex format. The microarray vjfl clearly distinguish homozygous wild type, heterozygotes, and homozygous mutants for the described mutations. Screening for hearing impairment in a laboratory-based program, parallel to auditory screening, will provide an overall superior screening service. The lab assay will identify many newborns that would be missed where auditory screening is not available. PROPOSED COMMERCIAL APPLICATION: NOT AVAILABLE

Thesaurus Terms:
communication disorder diagnosis, cytomegalovirus, diagnosis design /evaluation, genetic disorder diagnosis, hearing disorder, mass screening
gap junction, gene mutation, genetic screening, hearing test, membrane channel
microarray technology

Institution:	NEO GEN SCREENING, INC.
	BOX 219, ABELE BUSINESS PARK
	BRIDGEVILLE, PA 15017
Fiscal Year:	2003
Department:
Project Start:	01-JUL-2001
Project End:	31-MAR-2004
ICD:	NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
IRG:	ZRG1

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