CNGB1-related rod-cone dystrophy: A mutation review and update.

doi:10.1002/humu.24205

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Article

CNGB1-related rod-cone dystrophy: A mutation review and update.

Human mutation - 1 Jun 2021

Nassisi Marco, Smirnov Vasily M, Solis Hernandez Cyntia, Mohand-Saïd Saddek, Condroyer Christel, Antonio Aline, Kühlewein Laura, Kempf Melanie, Kohl Susanne, Wissinger Bernd, Nasser Fadi, Ragi Sara D, Wang Nan-Kai, Sparrow Janet R, Greenstein Vivienne C, Michalakis Stylianos, Mahroo Omar A, Ba-Abbad Rola, Michaelides Michel, Webster Andrew R, Degli Esposti Simona, Saffren Brooke, Capasso Jenina, Levin Alex, Hauswirth William W, Dhaenens Claire-Marie, Defoort-Dhellemmes Sabine, Tsang Stephen H, Zrenner Eberhart, Sahel Jose-Alain, Petersen-Jones Simon M, Zeitz Christina, Audo Isabelle

Abstract excerpt

Cyclic nucleotide-gated channel β1 (CNGB1) encodes the 240-kDa β subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa (RP). We herein present a comprehensive review and analysis of all previously reported CNGB1 sequence variants, and add 22 novel variants, thereby enlarging the spectrum...

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Identifiers

PMID: 33847019
DOI: 10.1002/humu.24205
PMCID: PMC8218941

Genes

CNGB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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