Artikel ; Online: Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.
European journal of medical genetics
2021 Band 64, Heft 9, Seite(n) 104287
Abstract: 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 ... ...
Abstract | 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. |
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Mesh-Begriff(e) | Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 10/genetics ; Cognition ; Facies ; Female ; Humans ; Infant ; Learning Disabilities/genetics ; Learning Disabilities/pathology ; Male ; Neuropeptides/genetics ; Phenotype ; rac GTP-Binding Proteins/genetics |
Chemische Substanzen | DOCK1 protein, human ; Neuropeptides ; neuropeptide S, human ; rac GTP-Binding Proteins (EC 3.6.5.2) |
Sprache | Englisch |
Erscheinungsdatum | 2021-07-09 |
Erscheinungsland | Netherlands |
Dokumenttyp | Case Reports ; Journal Article |
ZDB-ID | 2184135-4 |
ISSN | 1878-0849 ; 1769-7212 |
ISSN (online) | 1878-0849 |
ISSN | 1769-7212 |
DOI | 10.1016/j.ejmg.2021.104287 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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