Skip to Main content Skip to Navigation
Journal articles

Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45

Abstract : BACKGROUND: Retinitis pigmentosa (RP) is a group of retinal disorders with clinical and genetic heterogeneity characterized by the progressive dysfunction of photoreceptors. Mutations in the CNGB1 gene are involved in a rare autosomal recessive form of RP (RP45). We report the case of a 51-year-old woman, born of consanguineous parents (f = 1/32) of French origin, affected with non-syndromic RP. MATERIALS AND METHODS: Homozygosity mapping was performed on this patient and her two unaffected brothers using oligonucleotide arrays containing 300,000 markers including 200,000 single nucleotide polymorphisms. RESULTS: The largest homozygous region not shared by the patient and her brothers was a 23Mb region containing the CNGB1 gene situated on chromosome 16q12.1q23. Subsequent Sanger sequencing of CNGB1 identified a nonsense variant (p.Trp313*) segregating with the disease. CONCLUSIONS: To date, only 13 pathogenic CNGB1 variants have been reported in studies of 12 families. Six unrelated index patients were homozygous for a missense variant, four were homozygous for a splice-site variant, and two were compound heterozygous for nonsense and frameshift variants. The patient we report here is the first to be found homozygous for a novel nonsense CNGB1 variant. Our finding underscores the clinical usefulness of a genotype-first approach in recessive RP
Complete list of metadatas

Cited literature [13 references]  Display  Hide  Download

https://hal-univ-rennes1.archives-ouvertes.fr/hal-01282329
Contributor : Nelly Brenner <>
Submitted on : Thursday, March 2, 2017 - 5:04:27 PM
Last modification on : Thursday, October 15, 2020 - 5:10:05 PM

File

Run of homozygosity analysis.p...
Files produced by the author(s)

Identifiers

Citation

Mélanie Fradin, Estelle Colin, Daniele Hannouche-Bared, Isabelle Audo, José-Alain Sahel, et al.. Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. Ophthalmic Genetics, Taylor & Francis, 2016, 37 (3), pp.357-359. ⟨10.3109/13816810.2015.1087578⟩. ⟨hal-01282329⟩

Share

Metrics

Record views

959

Files downloads

827