دورية أكاديمية
أعرض في EDS

Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.

التفاصيل البيبلوغرافية
العنوان: Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.
المؤلفون: Streață I; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Caramizaru A; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.; Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania., Riza AL; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Șerban-Sosoi S; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Pîrvu A; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Cara ML; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Department of Public Health, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Cucu MG; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Dobrescu AM; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Ro-Nmca-Id Group; The Ro-NMCA-ID (RoNetwork Multiple Congenital Abnormalities with ID) Member of European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], 400011 Timisoara, Romania., CExBR Pediatric Neurology Obregia Group; Pediatric Neurology Rare Disease Expertise Center Obregia, Sos. Berceni nr. 10, Sector 4, 041914 Bucuresti, Romania., CExBR Pediatric Neurology V Gomoiu Hospital Group; Center for Expertise in Rare Diseases in Pediatric Neurology, Pediatric Neurology Clinical Department, Children's Clinical Hospital 'Dr. Victor Gomoiu', 022102 Bucharest, Romania., Shelby ES; National University Center for Children's Neurorehabilitation 'Dr. Nicolae Robănescu', 44 Dumitru Mincă Street, District 4, 041408 Bucharest, Romania., Albeanu A; Department of Pediatric Neurology, Clinical Emergency Children Hospital Brasov, Nicopole Street No. 45, 500063 Brasov, Romania., Burada F; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Ioana M; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
المصدر: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2022 Dec 12; Vol. 12 (12). Date of Electronic Publication: 2022 Dec 12.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101658402 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4418 (Print) Linking ISSN: 20754418 NLM ISO Abbreviation: Diagnostics (Basel) Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI AG, [2011]-
مستخلص: The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not follow a standardized diagnostic process that makes use of the benefits of advanced technologies. Our study aims to explore the contribution of chromosome microarray analysis (CMA) in identifying the genetic etiology of GDD/ID. A total of 371 Romanian patients with syndromic or non-syndromic GDD/ID, without epilepsy, were routinely evaluated in tertiary clinics. A total of 234 males (63.07%) and 137 (36.93%) females, with ages ranging from 6 months to 40 years (median age of 5.5 years), were referred for genetic diagnosis between 2015 and 2022; testing options included CMA and/or karyotyping. Agilent Technologies and Oxford Gene Technology CMA workflows were used. Pathogenic/likely pathogenic copy number variations (pCNVs) were identified in 79 patients (21.29%). Diagnosis yield was comparable between mild ID (17.05%, 22/129) and moderate/severe ID 23.55% (57/242). Higher rates were found in cases where facial dysmorphism (22.97%, 71/309), autism spectrum disorder (ASD) (19.11%, 26/136) and finger anomalies (20%, 27/96) were associated with GDD/ID. GDD/ID plus multiple congenital anomalies (MCA) account for the highest detection rates at 27.42% (17/62). pCNVs represent a significant proportion of the genetic causes of GDD/ID. Our study confirms the utility of CMA in assessing GDD/ID with an uncertain etiology, especially in patients with associated comorbidities.
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فهرسة مساهمة: Keywords: CNV; chromosome microarray analysis; global developmental delay; intellectual disability; microdeletion/microduplication
تواريخ الأحداث: Date Created: 20221223 Latest Revision: 20221225
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC9777762
DOI: 10.3390/diagnostics12123137
PMID: 36553144
قاعدة البيانات: MEDLINE
الوصف
تدمد:2075-4418
DOI:10.3390/diagnostics12123137