New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy

Circulation. 2021 Aug 31;144(9):754-757. doi: 10.1161/CIRCULATIONAHA.120.048295. Epub 2021 Aug 30.

Yasmine Aguib^#^{1

2}, Mona Allouba^#^{1

2}, Roddy Walsh^#³, Ayman M Ibrahim^{1

4}, Sarah Halawa^{1

5}, Alaa Afify¹, Mohammed Hosny^{1

6}, Pantazis I Theotokis², Aya Galal¹, Sara Elshorbagy¹, Mohamed Roshdy¹, Heba S Kassem⁷, Amany Ellithy¹, Rachel Buchan^{2

8}, Nicola Whiffin^{2

8

9}, Shehab Anwer¹, Stuart A Cook^{10

11

12}, Ahmed Moustafa^{5

13}, Ahmed ElGuindy^{1

2}, James S Ware^#^{2

8

12}, Paul J R Barton^#^{2

8

12}, Magdi Yacoub^#^{1

2

14}

¹ Aswan Heart Centre, Egypt (Y.A., M.A., A.M.I., S.H., A.A., M.H., A.G., S.E., M.R., A.E., S.A., A. ElGuindy, M.Y.).
² National Heart and Lung Institute, Imperial College London, United Kingdom (Y.A., M.A., P.I.T., R.B., N.W., A. ElGuindy, J.S.W., P.J.R.B., M.Y.).
³ Department of Experimental Cardiology, Amsterdam UMC, the Netherlands (R.W.).
⁴ Faculty of Science, Cairo University, Egypt (A.M.I.).
⁵ Biotechnology Graduate Program (S.H., A.M.), American University in Cairo, New Cairo, Egypt.
⁶ Cardiology Department, Faculty of Medicine, Cairo University, Egypt (M.H.).
⁷ Clinical Genomics Center, Alexandria Faculty of Medicine, Egypt (H.S.K.).
⁸ Royal Brompton and Harefield Hospitals, London, United Kingdom (R.B., N.W., J.S.W., P.J.R.B.).
⁹ Wellcome Centre for Human Genetics, University of Oxford, United Kingdom (N.W.).
¹⁰ Duke-National University of Singapore Medical School (S.A.C.).
¹¹ National Heart Centre Singapore (S.A.C.).
¹² MRC London Institute of Medical Sciences, United Kingdom (S.A.C., J.S.W., P.J.R.B.).
¹³ Department of Biology (A.M.), American University in Cairo, New Cairo, Egypt.
¹⁴ Harefield Heart Science Centre, United Kingdom (M.Y.).

^# Contributed equally.

No abstract available

Keywords: cardiomyopathy; codon, nonsense; frameshift mutation; genetic variation; high-throughput nucleotide sequencing; hypertrophic.

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