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. 2020 Aug 15;12(8):4576-4581.
eCollection 2020.

Use of whole-exome sequencing to identify a novel ADCY10 mutation in a patient with nephrolithiasis

Chenyu Wang  1   2 , Ran Du  2 , Jieyuan Jin  2 , Yi Dong  2 , Jishi Liu  1 , Liangling Fan  2   3 , Rong Xiang  2   3
Affiliations

Use of whole-exome sequencing to identify a novel ADCY10 mutation in a patient with nephrolithiasis

Chenyu Wang et al. Am J Transl Res. .

Erratum in

Abstract

Nephrolithiasis is a prevalent condition with high morbidity, and the incidence and prevalence of nephrolithiasis have been increasing worldwide. Although dozens of monogenic reason of nephrolithiasis have been identified, the fraction of the disease caused by single genes has not been determined. In this study, employing total exon sequencing technology, we investigated two patients in south-central China with primary nephrolithiasis and identified a novel ADCY10 mutation c.2186G > A (p.G729E) and a known ADCY10 mutation c.2182G > A (p.E728K). The results of our study suggest that ADCY10 plays an important role in nephrolithiasis.

Keywords: ADCY10; kidney stone; molecular diagnosis; nephrolithiasis.

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Conflict of interest statement

None.

Figures

Figure 1
Figure 1
A. Pedigree of the patient with nephrolithiasis. Family members are identified by generation and number. Squares indicate male family members; circles indicate female member; symbol with bias indicate carrier; arrow indicate proband, “+” means normal sequence; “-”means mutation; II:4 is propositus. B. Ultrasound report of the patient with nephrolithiasis shows that the patient suffers from parenchymal lesions of both kidneys, atrophy of both kidneys, multiple stones in the right kidney, hydrocephalus in the right kidney, left kidney cyst. Left kidney size 50 × 27 mm, right kidney size 59 × 30 mm, morphological rules, contour please, substantive echo enhancement, left kidney upper section can be explored and a size of about 15 × 16 mm no echo area, boundary clear, with envelope, right kidney collection system separation 30 mm, there is a kidney can probe a number of strong light group accompaniment, the larger 10 × 7 mm.
Figure 2
Figure 2
A. The domain of ADCY10, at the mutation position c.2186G > A (p.G729E), Conservative analysis and Comparison of the functional domains: Compared sequence of amino acid, mutation sites (gray) show a high degree of conservatism in different species. Known ADCY10 mutation causing NL. B. Sanger Sequencing confirmed the variation in patients; Sequence analysis of new mutations of c.2186G > A (p.G729E).
Figure 3
Figure 3
The mutation is c.2186G > A, and the protein change happen in position 729, glycine to glutamic acid, and the protein charge changes, the sign * shows: the mutation cause amino acid glycine to glutamic.
See this image and copyright information in PMC

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