PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of "CNV-positive" trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846809 | PMC |
| http://dx.doi.org/10.1038/gim.2017.83 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.
Turk Arch Pediatr
January 2025
Division of Allergy and Immunology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Türkiye.
Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease.
View Article and Find Full Text PDFDecoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.
Am J Hypertens
January 2025
Department of Medicine, College of Medicine, Northeast Ohio Medical University, Rootstown, OH, USA.
Hypertension is a growing concern worldwide, with increasing prevalence rates in both children and adults. Most cases of hypertension are multifactorial, with various genetic, environmental, socioeconomic, and lifestyle influences. However, monogenic hypertension, a blanket term for a group of rare of hypertensive disorders, is caused by single-gene mutations that are typically inherited in an autosomal dominant fashion, and ultimately disrupt normal blood pressure regulation in the kidney or adrenal gland.
View Article and Find Full Text PDFThe heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role. Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by rare compound heterozygous variants in RPL3L, a muscle-specific ribosomal protein that replaces the ubiquitous RPL3 in cardiac ribosomes. -linked heart failure represents the only known human disease arising from mutations in tissue-specific ribosomes, yet the underlying pathogenetic mechanisms remain poorly understood despite an increasing number of reported cases.
View Article and Find Full Text PDFMany inherited metabolic disorders (IMD) are associated with end-organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates. We present the first known report of liver transplantation from a deceased donor with cystinosis.
View Article and Find Full Text PDFThe GAA repeat expansion is a major cause of ataxia in the Cypriot population.
Brain Commun
January 2025
Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA) repeat units is considered highly penetrant, while (GAA) is likely pathogenic with reduced penetrance. This study investigated the frequency of the GAA repeat expansion and the phenotypic profile in a Cypriot cohort with unresolved late-onset cerebellar ataxia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!