Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis-Reference-Cited by-同舟云学术

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Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

Published:2019-02-18 Issue:3 Volume:138 Page:211-219
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Amar Ali,Majmundar Amar J.,Ullah Ihsan,Afzal Ayesha,Braun Daniela A.,Shril Shirlee,Daga Ankana,Jobst-Schwan Tilman,Ahmad Mumtaz,Sayer John A.,Gee Heon Yung,Halbritter Jan,Knöpfel Thomas,Hernando Nati,Werner Andreas,Wagner Carsten,Khaliq Shagufta,Hildebrandt Friedhelm^ORCID

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Harvard Stem Cell Institute

American Society of Nephrology and Polycystic Kidney Disease Foundation

National Research Foundation of Korea

Deutsche Forschungsgemeinschaft

Higher Education Commission, Pakistan through National Research Program for Universities

International Research Support Initiative Program

Kidney Research UK and the Northern Counties Kidney Research Fund

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-019-01978-x/fulltext.html

Reference24 articles.

1. Beck L, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS (1998) Targeted inactivation of < em> Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci 95:5372.

2. Beckmann JS (1996) The Réunion paradox and the digenic model. Am J Hum Genet 59:1400–1402

3. Braun DA, Lawson JA, Gee HY, Halbritter J, Shril S, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z et al (2016a) Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis. Clin J Am Soc Nephrol 11:664–672

4. Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D et al (2016b) Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89:468–475

5. Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W et al (2017) Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int 93:204–213

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