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4 results on '"Hurst, J.A. (Jane)"'

1. Diagnostic value of exome and whole genome sequencing in craniosynostosis

Author

Miller, K.A. (Kerry A.), Twigg, S.R.F. (Stephen), McGowan, S.J. (Simon), Phipps, J.M. (Julie), Fenwick, A.L. (Aimée), Johnson, D. (David), Wall, S.A. (Steven), Noons, P. (Peter), Rees, K.E.M. (Katie E.M.), Tidey, E.A. (Elizabeth A.), Craft, J. (Judith), Taylor, J. (John), Taylor, J.C. (Jenny C.), Goos, J.A.C. (Jacqueline), Swagemakers, S.M.A. (Sigrid), Mathijssen, I.M.J. (Irene), Spek, P.J. (Peter) van der, Lord, H. (Helen), Lester, K.J. (Kathryn), Abid, N. (Noina), Cilliers, D. (Deirdre), Hurst, J.A. (Jane), Morton, J. (Jenny), Sweeney, E. (Elizabeth), Weber, A. (Astrid), Wilson, L.C. (Louise), Wilkie, A.O.M. (Andrew), Miller, K.A. (Kerry A.), Twigg, S.R.F. (Stephen), McGowan, S.J. (Simon), Phipps, J.M. (Julie), Fenwick, A.L. (Aimée), Johnson, D. (David), Wall, S.A. (Steven), Noons, P. (Peter), Rees, K.E.M. (Katie E.M.), Tidey, E.A. (Elizabeth A.), Craft, J. (Judith), Taylor, J. (John), Taylor, J.C. (Jenny C.), Goos, J.A.C. (Jacqueline), Swagemakers, S.M.A. (Sigrid), Mathijssen, I.M.J. (Irene), Spek, P.J. (Peter) van der, Lord, H. (Helen), Lester, K.J. (Kathryn), Abid, N. (Noina), Cilliers, D. (Deirdre), Hurst, J.A. (Jane), Morton, J. (Jenny), Sweeney, E. (Elizabeth), Weber, A. (Astrid), Wilson, L.C. (Louise), and Wilkie, A.O.M. (Andrew)

Abstract

Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ~1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of these are included in routine laboratory genetic testing. Methods We used exome or whole genome sequencing to seek a genetic cause in a cohort of 40 subjects with craniosynostosis, selected by clinical or molecular geneticists as being high-priority cases, and in whom prior clinically driven genetic testing had been negative. Results We identified likely associated mutations in 15 patients (37.5%), involving 14 different genes. All genes were mutated in single families, except for IL11RA (two families). We classified the other positive diagnoses as follows: commonly mutated craniosynostosis genes with atypical presentation (EFNB1, TWIST1); other core craniosynostosis genes (CDC45, MSX2, ZIC1); genes for which mutations are only rarely associated with craniosynostosis (FBN1, HUWE1, KRAS, STAT3); and known disease genes for which a causal relationship with craniosynostosis is currently unknown (AHDC1, NTRK2). In two further families, likely novel disease genes are currently undergoing functional validation. In 5 of the 15 positive cases, the (previously unanticipated) molecular diagnosis had immediate, actionable consequences for either genetic or medical management (mutations in EFNB1, FBN1, KRAS, NTRK2, STAT3). Conclusions This substantial genetic heterogeneity, and the multiple actionable mutations identified, emphasises the benefits of exome/whole genome sequencing to identify causal mutations in craniosynostosis cases for which routine clinical testing has yielded negative results.

Published
2017
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2. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

Author

Schepers, D. (Dorien), Doyle, A.J. (Alexander), Oswald, P., Sparks, D.L. (David), Myers, L.A. (Loretha), Willems, P.J. (Patrick), Mansour, M.R. (Marc), Simpson, M.A. (Michael A), Frysira, H. (Helena), Maat-Kievit, A.A. (Anneke), Thornton, A.S. (Andrew), Hoogeboom, A.J.M. (Jeannette), Mortier, G. (Geert), Titheradge, H. (Hannah), Brueton, L. (Louise), Starr, L. (Lois), Stark, Z. (Zornitza), Ockeloen, C. (Charlotte), Lourenco, T. (Tania), Blair, E.M. (Ed), Hobson, K.A. (Keith), Hurst, J.A. (Jane), Maystadt, I. (Isabelle), Destrée, A. (Anne), Girisha, K.M. (Katta M), Miller, M. (Michelle), Dietz, H.C. (Harry ), Loeys, B.L. (Bart), Laer, L. (Lut) van, Schepers, D. (Dorien), Doyle, A.J. (Alexander), Oswald, P., Sparks, D.L. (David), Myers, L.A. (Loretha), Willems, P.J. (Patrick), Mansour, M.R. (Marc), Simpson, M.A. (Michael A), Frysira, H. (Helena), Maat-Kievit, A.A. (Anneke), Thornton, A.S. (Andrew), Hoogeboom, A.J.M. (Jeannette), Mortier, G. (Geert), Titheradge, H. (Hannah), Brueton, L. (Louise), Starr, L. (Lois), Stark, Z. (Zornitza), Ockeloen, C. (Charlotte), Lourenco, T. (Tania), Blair, E.M. (Ed), Hobson, K.A. (Keith), Hurst, J.A. (Jane), Maystadt, I. (Isabelle), Destrée, A. (Anne), Girisha, K.M. (Katta M), Miller, M. (Michelle), Dietz, H.C. (Harry ), Loeys, B.L. (Bart), and Laer, L. (Lut) van

Published
2014
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3. The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Author

Nikkel, S.M. (Sarah), Dauber, A. (Andrew), Munnik, S.A. (Sonja) de, Connolly, M. (Meghan), Hood, R.L. (Rebecca L), Caluseriu, O. (Oana), Hurst, J.A. (Jane), Kini, U. (Usha), Nowaczyk, M.J.M., Afenjar, A. (Alexandra), Albrecht, B., Allanson, J.E. (Judith), Balestri, P. (Paolo), Ben-Omran, T. (Tawfeg), Brancati, F. (Fred), Cordeiro, I. (Isabel), Da Cunha, B.S. (Bruna Santos), Delaney, P.F. (Peter), Destrée, A. (Anne), Fitzpatrick, D.R. (David), Forzano, F. (Francesca), Ghali, N. (Neeti), Gillies, G. (Greta), Harwood, J., Hendriks, Y., Héron, D. (Delphine), Hoischen, A. (Alex), Honey, E.M. (Engela Magdalena), Hoefsloot, E.H. (Lies), Ibrahim, J. (Jennifer), Jacob, C. (Claire), Kant, S.G. (Sarina), Kim, C.A. (Chong), Kirk, E.P. (Edwin P), Knoers, N.V.A.M. (Nine), Lacombe, D. (Denis), Lee, C.Y. (Chung-Yee), Lo, I.F.M. (Ivan F M), Lucas, L.S. (Luiza S), Mari, F. (Francesca), Mericq, V. (Veronica), Moilanen, J.S. (Jukka S), Møller, S.T. (Sanne Traasdahl), Moortgat, S. (Stephanie), Pilz, D.T. (Daniela), Pope, K. (Kate), Price, S. (Susan), Renieri, A. (Alessandra), Sá, J. (Joaquim), Schoots, J. (Jeroen), Silveira, E.L. (Elizabeth L), Simon, M.E.H. (Marleen), Slavotinek, A. (Anne), Temple, I.K., Burgt, I. (Ineke) van der, Vries, B.B.A. (Bert) de, Weisfeld-Adams, J.D. (James D), Whiteford, M.L. (Margo L), Wierczorek, D. (Dagmar), Wit, J.M. (Jan), Yee, C.F.O. (Connie Fung On), Beaulieu, P. (Patrick), White, S.M. (Sue M), Bulman, B., Bongers, E. (Ernie), Brunner, H. (Han), Feingold, M. (Murray), Boycott, K.M. (Kym), Nikkel, S.M. (Sarah), Dauber, A. (Andrew), Munnik, S.A. (Sonja) de, Connolly, M. (Meghan), Hood, R.L. (Rebecca L), Caluseriu, O. (Oana), Hurst, J.A. (Jane), Kini, U. (Usha), Nowaczyk, M.J.M., Afenjar, A. (Alexandra), Albrecht, B., Allanson, J.E. (Judith), Balestri, P. (Paolo), Ben-Omran, T. (Tawfeg), Brancati, F. (Fred), Cordeiro, I. (Isabel), Da Cunha, B.S. (Bruna Santos), Delaney, P.F. (Peter), Destrée, A. (Anne), Fitzpatrick, D.R. (David), Forzano, F. (Francesca), Ghali, N. (Neeti), Gillies, G. (Greta), Harwood, J., Hendriks, Y., Héron, D. (Delphine), Hoischen, A. (Alex), Honey, E.M. (Engela Magdalena), Hoefsloot, E.H. (Lies), Ibrahim, J. (Jennifer), Jacob, C. (Claire), Kant, S.G. (Sarina), Kim, C.A. (Chong), Kirk, E.P. (Edwin P), Knoers, N.V.A.M. (Nine), Lacombe, D. (Denis), Lee, C.Y. (Chung-Yee), Lo, I.F.M. (Ivan F M), Lucas, L.S. (Luiza S), Mari, F. (Francesca), Mericq, V. (Veronica), Moilanen, J.S. (Jukka S), Møller, S.T. (Sanne Traasdahl), Moortgat, S. (Stephanie), Pilz, D.T. (Daniela), Pope, K. (Kate), Price, S. (Susan), Renieri, A. (Alessandra), Sá, J. (Joaquim), Schoots, J. (Jeroen), Silveira, E.L. (Elizabeth L), Simon, M.E.H. (Marleen), Slavotinek, A. (Anne), Temple, I.K., Burgt, I. (Ineke) van der, Vries, B.B.A. (Bert) de, Weisfeld-Adams, J.D. (James D), Whiteford, M.L. (Margo L), Wierczorek, D. (Dagmar), Wit, J.M. (Jan), Yee, C.F.O. (Connie Fung On), Beaulieu, P. (Patrick), White, S.M. (Sue M), Bulman, B., Bongers, E. (Ernie), Brunner, H. (Han), Feingold, M. (Murray), and Boycott, K.M. (Kym)

Abstract

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2

Published
2013
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4. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

Author

Brooks, A.S. (Alice), Coo, I.F.M. (René) de, Matera, I. (Ivana), Graaff, E. (Esther) de, Meijers, C. (Carel), Willems, P.J. (Patrick), Tibboel, D. (Dick), Oostra, B.A. (Ben), Hofstra, R.M.W. (Robert), Bertoli Avella, A.M. (Aida), Burzynski, G.M. (Grzegorz), Breedveld, G.J. (Guido), Osinga, J. (Jan), Boven, L.G. (Ludolf), Hurst, J.A. (Jane), Mancini, G.M.S. (Grazia), Lequin, M.H. (Maarten), Brooks, A.S. (Alice), Coo, I.F.M. (René) de, Matera, I. (Ivana), Graaff, E. (Esther) de, Meijers, C. (Carel), Willems, P.J. (Patrick), Tibboel, D. (Dick), Oostra, B.A. (Ben), Hofstra, R.M.W. (Robert), Bertoli Avella, A.M. (Aida), Burzynski, G.M. (Grzegorz), Breedveld, G.J. (Guido), Osinga, J. (Jan), Boven, L.G. (Ludolf), Hurst, J.A. (Jane), Mancini, G.M.S. (Grazia), and Lequin, M.H. (Maarten)

Abstract

We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic features of GOSHS in this inbred family included microcephaly and mental retardation, which are both central nervous system defects, as well as Hirschsprung disease, an enteric nervous system defect. Furthermore, since bilateral generalized polymicogyria was diagnosed in all patients in this family, this feature might also be considered a key feature of the syndrome. We demonstrate that homozygous nonsense mutations in KIAA1279 at 10q22.1, encoding a protein with two tetratrico peptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of KIAA1279 in both enteric and central nervous system development.

Published
2005
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