ArticleScientific reports2022
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 7 citations in OpenAlex.
- Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.European journal of pediatrics · 2026Article
- Molecular diagnosis of 405 individuals with autism spectrum disorder.European journal of human genetics : EJHG · 2024Article
- Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study.Orphanet journal of rare diseases · 2024Article
- Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.Human genome variation · 2024Article
- Syndromic and non-syndromic etiologies causing neonatal hypocalcemic seizures.Frontiers in endocrinology · 2022Article
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Authors and funding
35 authors at 12 institutions in 1 country.
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Abstract
Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Initiative on Rare and Undiagnosed Diseases (IRUD) (TOKAI-IRUD). This study included only patients who had not previously received genome-wide testing. Review meetings with specialists in various medical fields were held to evaluate the genetic diagnosis in each case, which was based on the guidelines of the American College of Medical Genetics and Genomics. WES identified diagnostic single-nucleotide variants in 66 patients and copy number variants (CNVs) in 11 patients. Additionally, a patient was diagnosed with Angelman syndrome with a complex clinical phenotype upon detection of a paternally derived uniparental disomy (UPD) [upd(15)pat] wherein the patient carried a homozygous DUOX2 p.E520D variant in the UPD region. Functional analysis confirmed that this DUOX2 variant was a loss-of-function missense substitution and the primary cause of congenital hypothyroidism. A significantly higher proportion of genetic diagnoses was achieved compared to previous reports (44%, 78/177 vs. 24-35%, respectively), probably due to detailed discussions and the higher rate of CNV detection.
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