Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene

International Journal of Ophthalmology Press..

AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family.

METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation.

RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP.

CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia.

Medienart:

E-Artikel

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:13

Enthalten in:

International journal of ophthalmology - 13(2020), 8 vom: 24., Seite 1306-1311

Sprache:

Englisch

Beteiligte Personen:

Li, Hui-Ping [VerfasserIn]
Yuan, Shi-Qin [VerfasserIn]
Wang, Xiao-Guang [VerfasserIn]
Sheng, Xun-Lun [VerfasserIn]
Li, Xiao-Rong [VerfasserIn]

Links:

Volltext

Themen:

Journal Article
Myopia
Retinitis pigmentosa
Retinitis pigmentosa GTPase regulator
Whole exome sequencing

Anmerkungen:

Date Revised 28.09.2020

published: Electronic-eCollection

Citation Status PubMed-not-MEDLINE

doi:

10.18240/ijo.2020.08.18

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM313954143