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Your search keyword '"Familial schizophrenia"' showing total 2 results
Start Over Descriptor "Familial schizophrenia" Topic de novo mutations
2 results on '"Familial schizophrenia"'

1. Paternal age of schizophrenia probands and endophenotypic differences from unaffected siblings.

Author

Schmeidler, James, Lazzeroni, Laura, Ferreira, Rui, Freedman, Robert, Green, Michael, Greenwood, Tiffany, Gur, Raquel, Gur, Ruben, Olincy, Ann, Nuechterlein, Keith, Radant, Allen, Seidman, Larry, Siever, Larry, Stone, William, Sprock, Joyce, Sugar, Catherine, Tsuang, Debby, Turetsky, Bruce, Silverman, Jeremy, Calkins, Monica, Braff, David, Cadenhead, Kristin, Light, Gregory, Swerdlow, Neal, and Tsuang, Ming

Subjects
Copy number variants, De novo mutations, Familial schizophrenia, Genetic risk, Sporadic schizophrenia, Adult, Endophenotypes, Female, Humans, Male, Mutation, Paternal Age, Schizophrenia, Siblings
Abstract

We evaluated the discrepancy of endophenotypic performance between probands with schizophrenia and unaffected siblings by paternal age at proband birth, a possible marker for de novo mutations. Pairs of schizophrenia probands and unaffected siblings (N=220 pairs) were evaluated on 11 neuropsychological or neurophysiological endophenotypes previously identified as heritable. For each endophenotype, the sibling-minus-proband differences were transformed to standardized scores. Then for each pair, the average discrepancy was calculated from its standardized scores. We tested the hypothesis that the discrepancy is associated with paternal age, controlling for the number of endophenotypes shared between proband and his or her sibling, and proband age, which were both associated with paternal age. The non-significant association between the discrepancy and paternal age was in the opposite direction from the hypothesis. Of the 11 endophenotypes only sensori-motor dexterity was significant, but in the opposite direction. Eight other endophenotypes were also in the opposite direction, but not significant. The results did not support the hypothesized association of increased differences between sibling/proband pairs with greater paternal age. A possible explanation is that the identification of heritable endophenotypes was based on samples for which schizophrenia was attributable to inherited rather than de novo/non-inherited causes.

Published
2014

2. Paternal age of schizophrenia probands and endophenotypic differences from unaffected siblings

Author

Joyce Sprock, Bruce I. Turetsky, Ruben C. Gur, Keith H. Nuechterlein, Raquel E. Gur, Debby W. Tsuang, Monica E. Calkins, Kristin S. Cadenhead, Larry J. Seidman, Catherine A. Sugar, Michael F. Green, Laura C. Lazzeroni, Rui P. Ferreira, Neal R. Swerdlow, Ming T. Tsuang, Robert Freedman, Ann Olincy, Allen D. Radant, William S. Stone, David L. Braff, Larry J. Siever, Tiffany A. Greenwood, Gregory A. Light, Jeremy M. Silverman, and James Schmeidler

Subjects
Proband, Adult, Male, Endophenotypes, Medical and Health Sciences, Article, Paternal Age, Sporadic schizophrenia, Clinical Research, Familial schizophrenia, medicine, Genetics, Humans, Copy-number variation, Sibling, Biological Psychiatry, De novo mutations, Genetic risk, Psychiatry, Copy number variants, Siblings, Psychology and Cognitive Sciences, Neuropsychology, Paternal age, medicine.disease, Brain Disorders, Psychiatry and Mental health, Mental Health, Schizophrenia, Endophenotype, Mutation, Female, Psychology
Abstract

We evaluated the discrepancy of endophenotypic performance between probands with schizophrenia and unaffected siblings by paternal age at proband birth, a possible marker for de novo mutations. Pairs of schizophrenia probands and unaffected siblings (N=220 pairs) were evaluated on 11 neuropsychological or neurophysiological endophenotypes previously identified as heritable. For each endophenotype, the sibling-minus-proband differences were transformed to standardized scores. Then for each pair, the average discrepancy was calculated from its standardized scores. We tested the hypothesis that the discrepancy is associated with paternal age, controlling for the number of endophenotypes shared between proband and his or her sibling, and proband age, which were both associated with paternal age. The non-significant association between the discrepancy and paternal age was in the opposite direction from the hypothesis. Of the 11 endophenotypes only sensori-motor dexterity was significant, but in the opposite direction. Eight other endophenotypes were also in the opposite direction, but not significant. The results did not support the hypothesized association of increased differences between sibling/proband pairs with greater paternal age. A possible explanation is that the identification of heritable endophenotypes was based on samples for which schizophrenia was attributable to inherited rather than de novo/non-inherited causes. © 2014.

Published
2014

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