A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to Schizophrenia
| Autor: | Nancy Kiwan, Peter W.R. Woodruff, Colin A. Johnson, Anneka Tomlinson, Steven J. Clapcote, Hassen Al-Amin, Iain D. Wilkinson, Sophia Ahmed, Joanna C. Neill, Jamshid Nazari, Ahmed H Al-Amri, Chris F. Inglehearn, Rifka S Chamali, Manir Ali, Tariq Mahmood, Mohammed E El-Asrag, Juliette Randerson Moor, Suhaila Ghuloum, Shabana Khan, Alastair G. Cardno, Hamid A. Alhaj, James A. Poulter |
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| Rok vydání: | 2020 |
| Předmět: |
Male
AcademicSubjects/MED00810 Endophenotypes Genes Recessive Locus (genetics) Biology DNA sequencing Consanguinity 03 medical and health sciences 0302 clinical medicine Humans consanguineous/endophenotype/homozygosity/ chromosome 13q/risk haplotype Genetic Predisposition to Disease Gene Exome 030304 developmental biology Genetics 0303 health sciences Chromosomes Human Pair 13 Haplotype Disease gene identification Pedigree Minor allele frequency Psychiatry and Mental health Psychotic Disorders Genetic Loci Endophenotype Schizophrenia Female 030217 neurology & neurosurgery Regular Articles |
| Zdroj: | Schizophrenia Bulletin |
| ISSN: | 1745-1701 0586-7614 |
| DOI: | 10.1093/schbul/sbaa161 |
| Popis: | We report a consanguineous family in which schizophrenia segregates in a manner consistent with recessive inheritance of a rare, partial-penetrance susceptibility allele. From 4 marriages between 2 sets of siblings who are half first cousins, 6 offspring have diagnoses of psychotic disorder. Homozygosity mapping revealed a 6.1-Mb homozygous region on chromosome 13q22.2-31.1 shared by all affected individuals, containing 13 protein-coding genes. Microsatellite analysis confirmed homozygosity for the affected haplotype in 12 further apparently unaffected members of the family. Psychiatric reports suggested an endophenotype of milder psychiatric illness in 4 of these individuals. Exome and genome sequencing revealed no potentially pathogenic coding or structural variants within the risk haplotype. Filtering for noncoding variants with a minor allele frequency of |
| Databáze: | OpenAIRE |
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