Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identifed by next‑generation sequencing

Nayak, Shalini S and Kausthubham, Neethukrishna and Shukla, Anju and Girisha, KM (2021) Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identifed by next‑generation sequencing. Scientific Reports, 11 (764). pp. 1-13. ISSN 2045-2322

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Abstract

Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities. The majority of afected individuals have aortopathies associated with early mortality and morbidity. Implementation of targeted gene panel next-generation sequencing in these individuals is a powerful tool to obtain a genetic diagnosis. Here, we report on clinical and genetic spectrum of 53 families from India with a total of 83 patients who had a clinical diagnosis suggestive of Marfan syndrome or related disorders. We obtained a molecular diagnosis in 45/53 (85%) index patients, in which 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patients in total), seven (13.3%) in TGFBR1/TGFBR2 (Loeys–Dietz syndrome; nine patients in total) and two patients (3.7%) in SKI(Shprintzen–Goldberg syndrome). 21 of 41 rare variants (51.2%) were novel. We did not detect a disease-associated variant in 8 (15%) index patients, and none of them met the Ghent Marfan diagnostic criteria. We found the homozygous FBN1 variant p.(Arg954His) in a boy with typical features of Marfan syndrome. Our study is the frst reporting on the spectrum of variants in FBN1, TGFBR1, TGFBR2, and SKI in Indian individuals.

Item Type: Article
Subjects: Medicine > KMC Manipal > Medical Genetics
Depositing User: KMC Library
Date Deposited: 09 Jun 2021 04:25
Last Modified: 12 May 2022 04:57
URI: http://eprints.manipal.edu/id/eprint/156787

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