A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3

Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, et al. Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development. Am J Hum Genet. 2015;97(2):291–301.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, et al. A gene implicated in activation of retinoic acid receptor targets is a novel renal agenesis gene in humans. Genetics. 2017;207(1):215–28.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, et al. Exome-wide association study identifies GREB1L mutations in congenital kidney malformations. Am J Hum Genet. 2017;101(5):789–802.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Arora V, Khan S, El-Hattab AW, Dua Puri R, Rocha ME, Merdzanic R, et al. Biallelic pathogenic GFRA1 variants cause autosomal recessive bilateral renal agenesis. J Am Soc Nephrol. 2021;32(1):223–8.

Article  PubMed  CAS  Google Scholar 

De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, et al. Mutations in GREB1L Cause Bilateral Kidney Agenesis in humans and mice. Am J Hum Genet. 2017;101(5):803–14.

Article  PubMed  PubMed Central  Google Scholar 

Jacquinet A, Boujemla B, Fasquelle C, Thiry J, Josse C, Lumaka A, et al. GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer–Rokitansky–Kuster–Hauser syndrome. Clin Genet. 2020;98(2):126–37.

Article  PubMed  CAS  Google Scholar 

Wang A, Ji B, Wu F, Zhao X. Clinical exome sequencing identifies a novel mutation of the GREB1L gene in a Chinese family with renal agenesis. Genet Test Mol Biomark. 2020;24(8):520–6.

Article  CAS  Google Scholar 

Romero M, Ortega A, Olea N, Arenas MI, Izquierdo A, Bover J, et al. Novel role of parathyroid hormone-related protein in the pathophysiology of the diabetic kidney: evidence from experimental and human diabetic nephropathy. J Diabetes Res. 2013;2013: 162846.

Article  PubMed  PubMed Central  Google Scholar 

Mallett AJ, Quinlan C, Patel C, Fowles L, Crawford J, Gattas M, et al. Precision medicine diagnostics for rare kidney disease: Twitter as a tool in clinical genomic translation. Kidney Med. 2019;1(5):315–8.

Article  PubMed  PubMed Central  Google Scholar 

Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, et al. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genet Med. 2018;20(7):745–53.

Article  PubMed  CAS  Google Scholar 

Kari E, Llaci L, Go JL, Naymik M, Knowles JA, Leal SM, et al. Genes implicated in rare congenital inner ear and cochleovestibular nerve malformations. Ear Hear. 2020;41(4):983–9.

Article  PubMed  PubMed Central  Google Scholar 

Schrauwen I, Kari E, Mattox J, Llaci L, Smeeton J, Naymik M, et al. De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. Hum Genet. 2018;137(6–7):459–70.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, et al. Autosomal dominantly inherited GREB1L variants in individuals with profound sensorineural hearing impairment. Genes. 2020;11(6):687.

Article  PubMed Central  CAS  Google Scholar 

Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073–81.

Article  PubMed  CAS  Google Scholar 

Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;Chapter 7:Unit7.20.

Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet. 2016;48(12):1581–6.

Article  PubMed  CAS  Google Scholar 

Mathews DH, Disney MD, Childs JL, Schroeder SJ, Zuker M, Turner DH. Incorporating chemical modification constraints into a dynamic programming algorithm for prediction of RNA secondary structure. Proc Natl Acad Sci USA. 2004;101(19):7287–92.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Gruber AR, Lorenz R, Bernhart SH, Neuböck R, Hofacker IL. The Vienna RNA websuite. Nucleic Acids Res. 2008;36(Web Server issue):W70–4.

Lorenz R, Bernhart SH, Höner Zu Siederdissen C, Tafer H, Flamm C, Stadler PF, et al. ViennaRNA Package 2.0. Algorithms Mol Biol. 2011;6:26.

Raffone A, Travaglino A, Saccone G, Mascolo M, Insabato L, Mollo A, et al. PAX2 in endometrial carcinogenesis and in differential diagnosis of endometrial hyperplasia: a systematic review and meta-analysis of diagnostic accuracy. Acta Obstet Gynecol Scand. 2019;98(3):287–99.

Article  PubMed  CAS  Google Scholar 

Saifudeen Z, Liu J, Dipp S, Yao X, Li Y, McLaughlin N, et al. A p53-Pax2 pathway in kidney development: implications for nephrogenesis. PLoS ONE. 2012;7(9): e44869.

Article  PubMed  PubMed Central  Google Scholar 

Bosch RJ, Ortega A, Izquierdo A, Arribas I, Bover J, Esbrit P. A transgenic mouse model for studying the role of the parathyroid hormone-related protein system in renal injury. J Biomed Biotechnol. 2011;2011: 290874.

Article  PubMed  Google Scholar 

Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Jüppner H, et al. A form of Jansen’s metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab. 2004;89(7):3595–600.

Article  PubMed  CAS  Google Scholar 

Harshman LA, Brophy PD. PAX2 in human kidney malformations and disease. Pediatric Nephrol. 2012;27(8):1265–75.

Article  Google Scholar 

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, et al. Exome-wide association study identifies GREB1L mutations in congenital kidney malformations. Am J Hum Genet. 2017;101(6):1034.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Herlin MK, Le VQ, Hojland AT, Ernst A, Okkels H, Petersen AC, et al. Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Mullerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome. A case report. Hum Reprod. 2019;34(9):1838–46.

Article  PubMed  Google Scholar 

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