Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation

被引：2
作者：
Neissi, Mostafa [1 ,2 ,3 ,6 ]
Sheikh-Hosseini, Motahareh [3 ,4 ]
Mohammadi-Asl, Javad [3 ,5 ]
机构：
[1] Islamic Azad Univ, Dept Genet, Khuzestan Sci & Res Branch, Ahvaz, Iran
[2] Islamic Azad Univ, Dept Genet, Ahvaz Branch, Ahvaz, Iran
[3] Noor Gene Genet Lab, Ahvaz, Iran
[4] Univ Tehran Med Sci, Pediat Cell & Gene Therapy Res Ctr, Tehran, Iran
[5] Ahvaz Jundishapur Univ Med Sci, Sch Med, Dept Med Genet, Ahvaz, Iran
[6] Islamic Azad Univ, Dept Genet, Khuzestan Sci & Res Branch, Ahvaz, Iran
来源：
CLINICAL CASE REPORTS | 2024年 / 12卷 / 03期
关键词：
exome-sequencing; mutation; retinitis pigmentosa; RP1; gene; GENE; PROTEIN; DOUBLECORTIN; LOCALIZATION; ENCODES; KINASE;
D O I：
10.1002/ccr3.8666
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Key Clinical MessageThe identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa prognosis and genetic consultations, emphasizing comprehensive genetic analysis for personalized care. AbstractOur study unveils a noteworthy association between retinitis pigmentosa-1 and a newly discovered homozygous mutation (c.5326delC; p.Asp1777Ilefs*32) within the RP1 gene. This highlights the crucial role of accurate variant identification in not only informing prognosis but also improving genetic consultations and influencing future diagnostic approaches for individuals affected by retinitis pigmentosa.
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页数：8
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