Literature DB >> 16691574

A new case of Grange syndrome without cardiac findings.

Robert Wallerstein1, Ann Marie Augustyn, Donna Wallerstein, Leslie Elton, Beatriz Tejeiro, Valerie Johnson, Kenneth Lieberman.   

Abstract

Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. To date, we know of two reported families with five affected individuals. We report on one of the youngest cases, in a third family, a 3-year-old girl with brachysyndactyly, renal artery stenosis with hypertension, and bone fragility. She does not have apparent cardiac disease, suggesting cardiac anomalies may not be an obligatory finding in this syndrome. Copyright 2006 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2006        PMID: 16691574     DOI: 10.1002/ajmg.a.31125

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

1.  Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.

Authors:  Dong-Chuan Guo; Xue-Yan Duan; Ellen S Regalado; Lauren Mellor-Crummey; Callie S Kwartler; Dong Kim; Kenneth Lieberman; Bert B A de Vries; Rolph Pfundt; Albert Schinzel; Dieter Kotzot; Xuetong Shen; Min-Lee Yang; Michael J Bamshad; Deborah A Nickerson; Heather L Gornik; Santhi K Ganesh; Alan C Braverman; Dorothy K Grange; Dianna M Milewicz
Journal:  Am J Hum Genet       Date:  2016-12-08       Impact factor: 11.025

2.  Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.

Authors:  Ken Saida; Chong Ae Kim; José Ricardo Magliocco Ceroni; Debora Romeo Bertola; Rachel Sayuri Honjo; Satomi Mitsuhashi; Atsushi Takata; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2019-07-04       Impact factor: 3.172

3.  Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.

Authors:  Víctor Raggio; Nicolas Dell'Oca; Camila Simoes; Alejandra Tapié; Conrado Medici; Gonzalo Costa; Soledad Rodriguez; Gonzalo Greif; Estefania Garrone; María Laura Rovella; Virgina Gonzalez; Margarita Halty; Gabriel González; Jong-Yeon Shin; Sang-Yoon Shin; Changhoon Kim; Jeong-Sun Seo; Martin Graña; Hugo Naya; Lucia Spangenberg
Journal:  Hum Genomics       Date:  2021-05-10       Impact factor: 4.639

4.  Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

Authors:  Matthias Rath; Stefanie Spiegler; Tim M Strom; Johannes Trenkler; Peter Michael Kroisel; Ute Felbor
Journal:  Am J Med Genet A       Date:  2018-12-17       Impact factor: 2.802

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.