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Article

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

BMC medical genetics - 20 Jul 2018

Schrauwen Isabelle, Chakchouk Imen, Acharya Anushree, Liaqat Khurram, Irfanullah, Nickerson Deborah A, Bamshad Michael J, Shah Khadim, Ahmad Wasim, Leal Suzanne M

Abstract excerpt

BACKGROUND: Digenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic interaction between two loci. For both syndromic and non-syndromic hearing impairment, several forms of digenic inheritance have been reported. METHODS: We performed exome sequencing in a Pakistani family with profound non-syndromic hereditary hearing impairment to identify the genetic...

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Identifiers

PMID: 30029624
DOI: 10.1186/s12881-018-0618-5
PMCID: PMC6053831

Genes

PCDH15

Provenance

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