| 1. |
- Hu, H., et al.
(författare)
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
- 2016
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Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 21:1, s. 133-148
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Tidskriftsartikel (refereegranskat)abstract
- X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.
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| 2. |
- Jovanović, Veljko, et al.
(författare)
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The Satisfaction with Life Scale in Adolescent Samples : Measurement Invariance across 24 Countries and Regions, Age, and Gender
- 2022
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Ingår i: Applied Research in Quality of Life. - : Springer Science and Business Media LLC. - 1871-2584 .- 1871-2576. ; 17:4, s. 2139-2161
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Tidskriftsartikel (refereegranskat)abstract
- Measurement of adolescent life satisfaction across cultures has not received much attention in previous empirical research. The present study evaluated measurement invariance of the Satisfaction with Life Scale (SWLS) among adolescents in 24 countries and regions (N = 22,710; age range = 13–19 years; 53% female). A single-factor model with residual covariance between a pair of items tapping past life satisfaction fitted well in 19 countries and regions and showed a partial metric invariance. In a subset of nine countries and regions, partial scalar invariance was supported. Partial metric invariance across all 24 countries and regions was achieved when custom model modifications in five countries and regions were included. Three SWLS items showed evidence of noninvariance across cultures. The measurement model was found to operate similarly across gender and age. Our findings suggest that caution is needed when using the SWLS for measuring life satisfaction among adolescents from different cultures.
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