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Table 2 Results of whole exome sequencing

From: Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Inheritance pattern

Gene

Exonic function

Relation in disease or functions

OMIM

Reference

Autosomal recessive

PER3

Non-frame shift

deletion

FASPS3

616,882

Zhang et al.

LNP1

Non-frame shift

insertion

unknown

–

–

FADS6

Non-frame shift

insertion

Fatty acid metabolism

–

–

Compound heterozygote

ABCA2

Missense/missense

Macrophage lipid

metabolism

–

Kaminski et al.

MYO15A

Missense/Non-frame shift deletion

DFNB3

600,316

Wang et al., Liburd et al., Riahi et al.