Leber's congenital amaurosis pathopoiesia mutation and detection reagent thereof

Abstract

The invention discloses leber's congenital amaurosis pathopoiesia mutation and a detection reagent thereof. A mutation IFT52 gene causing leber's congenital amaurosis is provided; the mutation IFT52 gene is a homozygous mutation IFT52 p.T186A. The gene number of the wild IFT52 gene in an Ensembl database is ENSG00000101052; the basic group of the mutation IFT52 gene in a physical position chr20:42242560 is mutated from A to G; other parts are identical to those of the wild type. The invention provides a novel pathopoiesia site of the pathopoiesia gene. The novel molecular biology basis is provided for the disease diagnosis.

Description

technical field [0001] The invention belongs to the field of biomedicine and relates to a pathogenic mutation of Leber's congenital amaurosis and a detection reagent thereof. Background technique [0002] Leber congenital amaurosis (LCA) is a group of congenital blinding retinal degenerative diseases caused by genetic defects. LCA is one of the important causes of blindness in infants under 1 year old, and has a high incidence in my country and even in the world. According to statistics, LCA accounts for 20% of the blindness of blind school children in the world, and accounts for 5% of all hereditary retinal degenerative diseases. However, the fundus changes of LCA patients are very diverse. In the early stage, there may be no abnormalities in the fundus, but pigmentation, retinal vascular thinning, and macular defects may also appear. LCA patients can also be accompanied by other ocular phenotypes such as high refractive error, keratoconus, congenital cataract, and system...

AI Technical Summary

Problems solved by technology

The positional cloning strategy based on linkage analysis is a classic method to identify the causative genes of single-gene genetic diseases, but it also faces some difficulties: ① usually requires multi-generation families, and it is difficult to analyze small families and sporadic cases

②Sometimes multi-generational families cannot locate the pathogenic locus

③ It is difficult to screen out the correct disease-causing gene in the linkage region

Existing studies have shown that IFT52 gene mutations can cause Sensenbrenner syndrome (Girisha KM, Shukla A, Trujillano D et al. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clin Genet. 2016 Dec; 90(6): 536 -539) and short-rib polydactyly syndrome (Zhang W, Taylor SP, Nevarez L et al. IFT52 mutations destabilize anterograde complex assembly, disruptciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet. 2016Sep 15; 25(128): 4 -4020), however, the relationship between IFT52 gene mutations and LCA has never been reported or confirmed

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