Academic Journal
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems
| العنوان: | Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems |
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| المؤلفون: | Huynh, Minh-Tuan, Gérard, Marion, Ranguin, Kara, Pichon, Olivier, Ghesh, Leila, Alfallaj, Khalid, Joubert, Madeleine, Bézieau, Stéphane, Bénéteau, Claire |
| المساهمون: | Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Service de Génétique CHU Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), Service d’Anatomie et Cytologie Pathologiques CHU Nantes, ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ) |
| المصدر: | ISSN: 1364-6745. |
| بيانات النشر: | CCSD Springer Verlag |
| سنة النشر: | 2021 |
| المجموعة: | Université de Nantes: HAL-UNIV-NANTES |
| مصطلحات موضوعية: | Behavioral problems, Developmental delay, Novel 2q12.3q13 microdeletion syndrome, RANBP2, Smallest region of overlap, Susceptibility to viral infections, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics |
| الوصف: | International audience ; Microarray-based comparative genomic hybridization (aCGH) is being increasingly applied to delineate novel genomic disorders and related syndromes in patients with developmental delay. In this study, detailed clinical and cytogenetic data of three unrelated patients with interstitial 2q12.3q13 microdeletion were described and compared with thirteen 2q12.3q13 microdeletion patients, gathered from the medical literature and public databases. 60 K aCGH analysis revealed three overlapping 2q12.3q13 microdeletions measuring 1.88 Mb in patient 1, 1.25 Mb in patient 2, and 0.41 Mb in patient 3, respectively. Confirmation and segregation studies were performed using fluorescence in situ hybridization (FISH) and quantitative real-time PCR. Variable clinical features of 2q12.3q13 microdeletion including microcephaly, prenatal growth retardation, developmental delay, short stature, behavioral problems, learning difficulties, skeletal anomalies, congenital heart defects, and features of ectodermal dysplasia were observed. The boundaries and sizes of the 2q12.3q13 deletions in the sixteen patients were different, but an overlapping region of 249 kb in 2q12.3 was defined. The SRO (smallest region of overlap) encompasses four genes, including LIMS1, RANBP2, CCDC138, and EDAR. Among these genes, RANBP2 is a strong candidate gene for neurological phenotype and genetic susceptibility to viral infections. To our knowledge, this is the first published report of 2q12.3q13 microdeletion syndrome and our observations strongly suggest that these recurrent CNVs may be a novel risk factor for developmental delay with variable expressivity and incomplete penetrance. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1007/s10048-021-00653-6 |
| الاتاحة: | https://hal.science/hal-04453247 https://doi.org/10.1007/s10048-021-00653-6 |
| رقم الانضمام: | edsbas.8C5732E2 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/s10048-021-00653-6 |
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