دورية أكاديمية
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype
| العنوان: | Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype |
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| المؤلفون: | Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaëlle, Pebrel-Richard, Céline, Gouas, Laetitia, Vago, Philippe, Tchirkov, Andrei, Goumy, Carole |
| المساهمون: | CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA) |
| المصدر: | ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-03345219Test ; European Journal of Medical Genetics, 2021, 64 (9), pp.104287. ⟨10.1016/j.ejmg.2021.104287⟩. |
| بيانات النشر: | HAL CCSD Elsevier |
| سنة النشر: | 2021 |
| المجموعة: | Inserm: HAL (Institut national de la santé et de la recherche médicale) |
| مصطلحات موضوعية: | 10q26 deletion, DOCK1, Growth failure, INSYN2, Intellectual disability, Minimal critical region, NPS, [SDV]Life Sciences [q-bio] |
| الوصف: | International audience ; Background: The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear.Case presentation: We report two new cases of 860 kb deletion of 10q26.2 identified by array CGH in a fetus with intrauterine growth retardation and his mother. The deleted region encompassed only four coding genes, DOCK1, INSYN2, NPS and FOX12. The proband had dysmorphic facies characterized by a high forehead, malformed ears, a prominent nose, and retrognathia. He had bilateral club feet, clinodactily and mild psychomotor retardation. His mother had a short stature, microcephaly, a long face with a high forehead and bitemporal narrowing, arched and sparse eyebrows, strabismus, prominent nose and chin, a thin upper lip and large protruding ears, and mild intellectual disability.Conclusions: This study presents the smallest 10q26.2 deletion so far identified, which further refines the minimal critical region associated with the 10q26 microdeletion syndrome. It focuses on three genes potentially responsible for the phenotype: DOCK1, which is the major candidate gene, and INSYN2 and NPS, which could be involved in cognitive functions. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/34252586; hal-03345219; https://hal.science/hal-03345219Test; https://hal.science/hal-03345219/documentTest; https://hal.science/hal-03345219/file/S1769721221001531.pdfTest; PII: S1769-7212(21)00153-1; PUBMED: 34252586 |
| DOI: | 10.1016/j.ejmg.2021.104287 |
| الإتاحة: | https://doi.org/10.1016/j.ejmg.2021.104287Test https://hal.science/hal-03345219Test https://hal.science/hal-03345219/documentTest https://hal.science/hal-03345219/file/S1769721221001531.pdfTest |
| حقوق: | http://creativecommons.org/licenses/by-ncTest/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.F36BD16A |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.ejmg.2021.104287 |
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