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Article

Isolated Congenital Anosmia and CNGA2 Mutation.

Scientific reports - 1 Jun 2017

Sailani M Reza, Jingga Inlora, MirMazlomi Seyed Hashem, Bitarafan Fatemeh, Bernstein Jonathan A, Snyder Michael P, Garshasbi Masoud

Abstract excerpt

Isolated congenital anosmia (ICA) is a rare condition that is associated with life-long inability to smell. Here we report a genetic characterization of a large Iranian family segregating ICA. Whole exome sequencing in five affected family members and five healthy members revealed a stop gain mutation in CNGA2 (OMIM 300338) (chrX:150,911,102; CNGA2. c.577C > T; p.Arg193*). The mutation segregates in an X-linked...

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Identifiers

PMID: 28572688
DOI: 10.1038/s41598-017-02947-y
PMCID: PMC5454015

Genes

CNGA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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