The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Author:

Germain Dominique P.1234ORCID,Moiseev Sergey5,Suárez‐Obando Fernando6,Al Ismaili Faisal7,Al Khawaja Huda8,Altarescu Gheona9,Barreto Fellype C.10,Haddoum Farid11,Hadipour Fatemeh12,Maksimova Irina13,Kramis Mirelle14,Nampoothiri Sheela15,Nguyen Khanh Ngoc16,Niu Dau‐Ming1718,Politei Juan19,Ro Long‐Sun20,Vu Chi Dung16,Chen Nan21,Kutsev Sergey22

Affiliation:

1. French Referral Center for Fabry disease Division of Medical Genetics University of Versailles Montigny France

2. First Faculty of Medicine Charles University Prague Czech Republic

3. Faculty of Medicine University of Puthisastra Phnom Penh Cambodia

4. MetabERN Center for Rare Diseases APHP – Paris Saclay University Paris France

5. Tareev Clinic of Internal Diseases Sechenov First Moscow State Medical University Moscow Russia

6. Instituto de Genética Humana Facultad de Medicina Pontificia Universidad Javeriana, and Servicio de Genética, Hospital Universitario San Ignacio Bogotá Colombia

7. Nephrology Department The Royal Hospital Muscat Oman

8. MCH Hospital Al‐Hassa Saudi Arabia

9. Genetic Unit Shaare Zedek Medical Center Jerusalem Israel

10. Service of Nephrology Department of Internal Medicine Federal University of Paraná Curitiba Brazil

11. Centre Hospitalo‐Universitaire Mustapha Algiers Algeria

12. Medical Genetics Department Atieh Hospital Tehran Iran

13. Sanofi Moscow Russia

14. Hospital Español México City Mexico

15. Department of Pediatric Genetics Amrita Institute of Medical Sciences & Research Centre Kochi India

16. Center for Rare Diseases and Newborn Screening Vietnam National Children's Hospital Hanoi Vietnam

17. Institute of Clinical Medicine National Yang‐Ming University Taipei Taiwan

18. Department of Pediatrics Taipei Veterans General Hospital Taipei Taiwan

19. Neurology Department, Laboratorio Neuroquímica Dr Néstor Chamoles Buenos Aires Buenos Aires Argentina

20. Department of Neurology Chang Gung Memorial Hospital‐Linkou Medical Center Taoyuan Taiwan

21. Department of Nephrology Institute of Nephrology Ruijin Hospital The Medical School of Shanghai Jiao Tong University Shanghai China

22. Research Centre for Medical Genetics Moscow Russia

Funder

Genzyme

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference78 articles.

1. Fabry disease in families with hypertrophic cardiomyopathy: Clinical manifestations in the classic and later‐onset phenotypes;Adalsteinsdottir B.;Circulation. Cardiovascular Genetics,2017

2. Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry

3. Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

4. Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single‐center study in Turkey;Barman H. A.;Anatolian Journal of Cardiology,2020

5. Arterial remodelling in Fabry disease;Boutouyrie P.;Acta Paediatrica,2002

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