dc.contributor.author | Bayrakli F. | |
dc.contributor.author | Canpolat M. | |
dc.contributor.author | Per H. | |
dc.contributor.author | Gumus H. | |
dc.contributor.author | Kumandas S. | |
dc.contributor.author | Kartal U. | |
dc.contributor.author | Balaban H. | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T09:32:05Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T09:32:05Z | |
dc.date.issued | 2014 | |
dc.identifier.issn | 1662680X | |
dc.identifier.uri | https://dx.doi.org/10.1159/000357172 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/5449 | |
dc.description | S. Karger AG | en_US |
dc.description.abstract | Background: Cerebellar hypoplasia (CH) is a rare malformation caused by various etiologies, usually manifesting clinically as nonprogressive cerebellar ataxia with or without mental retardation. The molecular pathogenesis of the autosomal recessive cerebellar ataxias has a wide range of mechanisms. Differential diagnosis and categorization of the recessive cerebellar ataxias, however, need more specific, biochemical and genetic investigation. Methods: This study applied whole-genome linkage analysis to study a family with nonprogressive cerebellar ataxia and additional mental retardation, epilepsy, and facial dysmorphic features. Genotyping and linkage analysis was done using the GeneChip Mapping 250K NspI Array (Affymetrix Inc., Santa Clara, Calif., USA) for genome-wide linkage analysis of the genotyping data from the affected children and their parents. Results: Allegro software version 1.2 was used for multipoint linkage analysis. We assumed an autosomal recessive inheritance pattern and assigned a penetrance of 0.999. Single-nucleotide polymorphism allele frequencies were estimated from the Affymetrix data of the Caucasian family studied. Using these parameters, a theoretical maximum logarithm of the odds score of 2.69 was identified at chromosome 20p11.21-q11.23. Conclusions: This chromosomal locus is unprecedented in autosomal recessive and nonprogressive ataxia disorder. Further investigation might reveal a new causative gene generating the CH phenotype. © 2014 S. Karger AG, Basel. | en_US |
dc.description.sponsorship | Bayrakli, F.; Department of Neurosurgery, Cumhuriyet University School of Medicine, Kampus Merkez, TR-58140 Sivas, Turkey; email: fbayrakli@cumhuriyet.edu.tr | en_US |
dc.language.iso | eng | en_US |
dc.relation.isversionof | 10.1159/000357172 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Cerebellar hypoplasia | en_US |
dc.subject | Logarithm of the odds score | en_US |
dc.subject | Mental retardation | en_US |
dc.subject | Parametric linkage analysis | en_US |
dc.title | A family with mental retardation, epilepsy and cerebellar hypoplasia showing linkage to chromosome 20p11.21-q11.23 | en_US |
dc.type | article | en_US |
dc.relation.journal | Case Reports in Neurology | en_US |
dc.contributor.department | Bayrakli, F., Department of Neurosurgery, Cumhuriyet University School of Medicine, Kampus Merkez, TR-58140 Sivas, Turkey -- Canpolat, M., Department OfChild Neurology, Erciyes University School of Medicine, Kayseri, Turkey -- Per, H., Department OfChild Neurology, Erciyes University School of Medicine, Kayseri, Turkey -- Gumus, H., Department OfChild Neurology, Erciyes University School of Medicine, Kayseri, Turkey -- Kumandas, S., Department OfChild Neurology, Erciyes University School of Medicine, Kayseri, Turkey -- Kartal, U., Neurogenetic Research Laboratory, Cumhuriyet University School of Medicine, Sivas, Turkey -- Balaban, H., Department of Neurology, Cumhuriyet University School of Medicine, Sivas, Turkey | en_US |
dc.identifier.volume | 6 | en_US |
dc.identifier.issue | 1 | en_US |
dc.identifier.endpage | 22 | en_US |
dc.identifier.startpage | 18 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |