Year: 2025
Type: article
Study design: Observational Study
Abstract: This cohort study of 48 unrelated probands with rare monogenic childhood hypotonia was designed to assess the clinical presentations, spectrum of disorders, and utility of exome sequencing in selected cases where preliminary genetic tests did not sufficiently explain the etiology. Clinically 56.3% of the cases appeared to be of peripheral hypotonia, 33.3% cases were of central hypotonia, and remaining 10.4% were mixed hypotonia cases. Exome sequencing was able to provide a diagnosis in 52.1% cases in the entire cohort of rare monogenic childhood hypotonia. Majority (41.6%) of the probands had a clinical diagnosis of congenital myopathy/muscular dystrophy in the cohort of which 60% arrived at a molecular diagnosis. LMNA-related and LAMA2-related congenital muscular dystrophies were the most common genes identified in the cohort. We also report 12 novel variants and provide illustrative rare phenotypes for better delineation of specific disorders.
Source: Journal of Pediatric Genetics
Authors: Arya Shambhavi, Amita Moirangthem, Rajesh Kumar Maurya, Varunvenkat M. Srinivasan, Haseena Sait, Somya Srivastava, Renu Suthar, Shubha R. Phadke
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4414966491
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