Literature DB >> 22987684

Grange syndrome: an identifiable cause of stroke in young adults.

Irene Volonghi1, Michele Frigerio, Dikran Mardighian, Roberto Gasparotti, Elisabetta Del Zotto, Alessia Giossi, Paolo Costa, Loris Poli, Guido Jeannin, Gina A Gregorini, Alessandro Padovani, Alessandro Pezzini.   

Abstract

Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. It was first described in four members of the same family and in two sporadic cases thereafter, suggesting the possibility of various patterns of inheritance. We report on the case of an 18-year-old female presenting with subarachnoid hemorrhage due to the rupture of a basilar artery aneurysm, and with distinctive systemic features including extensive vasculopathy, facial dysmorphisms and brachysyndactyly, consistent with the diagnosis of Grange syndrome. Although rare and not fully characterized, Grange syndrome should be included in the differential diagnosis of stroke at young age.
Copyright © 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID: 22987684     DOI: 10.1002/ajmg.a.35593

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


  3 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.  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

  3 in total

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