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14. Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

Author

Simpson, N, Addis, L, Brandler, WM, Slonims, V, Clark, A, Watson, J, Scerri, T, Hennessy, E, Bolton, P, Conti-Ramsden, G, Fairfax, B, Knight, J, Stein, J, Talcott, J, O'Hare, A, Baird, G, Paracchini, S, Fisher, SE, Newbury, D, Nudel, R, Monaco, A, Simonoff, E, Pickles, A, Everitt, A, and Seckl, J

Abstract

Aim: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. Method: Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). Results: In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. Interpretation: The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals. © 2013 The Authors. Developmental Medicine and Child Neurology published by John Wiley and Sons Ltd on behalf of Mac Keith Press.

Published
2016

15. Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes

Author

Pettigrew, K, Frinton, E, Nudel, R, Chan, M, Thompson, P, Hayiou-Thomas, M, Talcott, J, Stein, J, Newbury, D, and Paracchini, S

Abstract

Background: Specific Language Impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10% of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. Methods: We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. Results: We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. Conclusions: A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits.

Published
2016

17. The DCDC2 deletion is not a risk factor for dyslexia

Author

Scerri, T S, primary, Macpherson, E, additional, Martinelli, A, additional, Wa, W C, additional, Monaco, A P, additional, Stein, J, additional, Zheng, M, additional, Suk-Han Ho, C, additional, McBride, C, additional, Snowling, M, additional, Hulme, C, additional, Hayiou-Thomas, M E, additional, Waye, M M Y, additional, Talcott, J B, additional, and Paracchini, S, additional

Published
2017
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18. The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts

Author

Shore, R, Covill, L, Pettigrew, K, Brandler, W, Diaz, R, Xu, Y, Tello, J, Talcott, J, Newbury, D, Stein, J, Monaco, A, Paracchini, S, Shore, R, Covill, L, Pettigrew, K, Brandler, W, Diaz, R, Xu, Y, Tello, J, Talcott, J, Newbury, D, Stein, J, Monaco, A, and Paracchini, S

Abstract

We recently reported the association of the PCSK6 gene with handedness through a quantitative genome-wide association study (GWAS; P < 0.5 × 10−8) for a relative hand skill measure in individuals with dyslexia. PCSK6 activates Nodal, a morphogen involved in regulating left–right body axis determination. Therefore, the GWAS data suggest that the biology underlying the patterning of structural asymmetries may also contribute to behavioural laterality, e.g. handedness. The association is further supported by an independent study reporting a variable number tandem repeat (VNTR) within the same PCSK6 locus to be associated with degree of handedness in a general population cohort. Here, we have conducted a functional analysis of the PCSK6 locus combining further genetic analysis, in silico predictions and molecular assays. We have shown that the previous GWAS signal was not tagging a VNTR effect, suggesting that the two markers have independent effects. We demonstrated experimentally that one of the top GWAS-associated markers, rs11855145, directly alters the binding site for a nuclear factor. Furthermore, we have shown that the predicted regulatory region adjacent to rs11855415 acts as a bidirectional promoter controlling the expression of novel RNA transcripts. These include both an antisense long non-coding RNA (lncRNA) and a short PCSK6 isoform predicted to be coding. This is the first molecular characterization of a handedness-associated locus that supports the role of common variants in non-coding sequences in influencing complex phenotypes through gene expression regulation.

Published
2016

20. ADDRESSING CONFLICTS OF INTEREST IN THE CONTEXT OF CAMPUS SEXUAL VIOLENCE.

Author

Franklin, Talcott J., Taylor, Dennis C., and Beytagh, Ann

Subjects
*SEXUAL assault, *UNIVERSITIES & colleges, *CONFLICT of interests, *LEGAL professions
Abstract

The article discusses the cases of sexual violence in University campuses in the United States including Oregon State University and Pennsylvania State University. It also mentions the issue of conflict of interest arising out of cases of sexual violence in Universities and professions like law, accounting and engineering.

Published
2017

35. Checklist for boom selection

Author

Talcott, J. M

Subjects
Structural Mechanics
Abstract

User checklist for spacecraft boom selection with review of structural, electrical and mechanical properties

Published
1970

36. On the spin-stability of a flexible body.

Author

Talcott, J. M

Subjects
Structural Mechanics
Abstract

Dynamic modeling for spin stability of satellites with flexible parts, noting torques induced by attitude control

Published
1969

46. Prostate Cancer Practice Patterns and Quality of Life: the Prostate Cancer Outcomes Study

Author

Potosky, A. L., primary, Harlan, L. C., additional, Stanford, J. L., additional, Gilliland, F. D., additional, Hamilton, A. S., additional, Albertsen, P. C., additional, Eley, J. W., additional, Liff, J. M., additional, Deapen, D., additional, Stephenson, R. A., additional, Legler, J., additional, Ferrans, C. E., additional, Talcott, J. A., additional, and Litwin, M. S., additional

Published
1999
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