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Your search keyword '"Stark, Z. (Zornitza)"' showing total 3 results
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3 results on '"Stark, Z. (Zornitza)"'

1. SYT1-associated neurodevelopmental disorder: a case series

Author

Baker, K. (Kate), Gordon, S.L. (Sarah L.), Melland, H. (Holly), Bumbak, F. (Fabian), Scott, D.J. (Daniel J.), Jiang, T.J. (Tess J.), Owen, D. (David), Turner, B.J. (Bradley J.), Boyd, S.G. (Stewart G.), Rossi, M. (Mari), Al-Raqad, M. (Mohammed), Elpeleg, O. (Orly), Peck, D. (Dawn), Mancini, G.M.S. (Grazia), Wilke, M. (Martina), Zollino, M., Marangi, G. (Giuseppe), Weigand, H. (Heike), Borggraefe, I. (Ingo), Haack, T. (Tobias), Stark, Z. (Zornitza), Sadedin, S. (Simon), Tan, T.Y. (Tiong Yang), Jiang, Y. (Yunyun), Gibbs, R.A. (Richard A.), Ellingwood, S. (Sara), Amaral, M. (Michelle), Kelley, W. (Whitley), Kurian, M.A. (Manju A.), Cousin, M.A. (Michael A.), Raymond, F.L. (F. Lucy), Baker, K. (Kate), Gordon, S.L. (Sarah L.), Melland, H. (Holly), Bumbak, F. (Fabian), Scott, D.J. (Daniel J.), Jiang, T.J. (Tess J.), Owen, D. (David), Turner, B.J. (Bradley J.), Boyd, S.G. (Stewart G.), Rossi, M. (Mari), Al-Raqad, M. (Mohammed), Elpeleg, O. (Orly), Peck, D. (Dawn), Mancini, G.M.S. (Grazia), Wilke, M. (Martina), Zollino, M., Marangi, G. (Giuseppe), Weigand, H. (Heike), Borggraefe, I. (Ingo), Haack, T. (Tobias), Stark, Z. (Zornitza), Sadedin, S. (Simon), Tan, T.Y. (Tiong Yang), Jiang, Y. (Yunyun), Gibbs, R.A. (Richard A.), Ellingwood, S. (Sara), Amaral, M. (Michelle), Kelley, W. (Whitley), Kurian, M.A. (Manju A.), Cousin, M.A. (Michael A.), and Raymond, F.L. (F. Lucy)

Abstract

Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations in SYT1. All mutations alter highly conserved residues, and cluster in two regions of the SYT1 C2B domain at positions Met303 (M303K), Asp304 (D304G), Asp366 (D366E), Ile368 (I368T) and Asn371 (N371K). Phenotypic features include infantile hypotonia, congenital ophthalmic abnormalities, childhood-onset hyperkinetic movement disorders, motor stereotypies, and developmental delay varying in severity from moderate to profound. Behavioural characteristics include sleep disturbance and episodic agitation. Absence of epileptic seizures and normal orbitofrontal head circumference are important negative features. Structural MRI is unremarkable but EEG disturbance is universal, characterized by intermittent low frequency high amplitude oscillations. The functional impact of these five de novo SYT1 mutations has been assessed by expressing rat SYT1 protein containing the equivalent human varian

Published
2018
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2. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Author

Reijnders, M.R.F. (Margot R.F.), Zachariadis, V. (Vasilios), Latour, B. (Brooke), Jolly, L. (Lachlan), Mancini, G.M.S. (Grazia), Pfundt, R. (Rolph), Wu, K.M. (Ka Man), Ravenswaaij-Arts, C.M.A. (Conny) van, Veenstra-Knol, H.E. (Hermine), Anderlid, B.-M.M. (Britt-Marie M.), Wood, S.A. (Stephen A.), Cheung, S.W. (Sau Wai), Barnicoat, A. (Angela), Probst, F. (Frank), Magoulas, P. (Pilar), Brooks, A.S. (Alice), Malmgren, H. (Helena), Harila-Saari, A. (Arja), Marcelis, C.M. (Carlo M.), Vreeburg, J.T.M. (Jan), Hobson, E. (Emma), Sutton, V.R. (V. Reid), Stark, Z. (Zornitza), Vogt, J. (Julie), Cooper, N. (Nicola), Lim, J.Y. (Jiin Ying), Price, S. (Susan), Lai, A.H.M. (Angeline Hwei Meeng), Domingo, D. (Deepti), Reversade, B. (Bruno), Gecz, J. (Jozef), Gilissen, C. (Christian), Brunner, H.G. (Han G.), Kini, U. (Usha), Roepman, R. (Ronald), Nordgren, A. (Ann), Kleefstra, T. (Tjitske), Reijnders, M.R.F. (Margot R.F.), Zachariadis, V. (Vasilios), Latour, B. (Brooke), Jolly, L. (Lachlan), Mancini, G.M.S. (Grazia), Pfundt, R. (Rolph), Wu, K.M. (Ka Man), Ravenswaaij-Arts, C.M.A. (Conny) van, Veenstra-Knol, H.E. (Hermine), Anderlid, B.-M.M. (Britt-Marie M.), Wood, S.A. (Stephen A.), Cheung, S.W. (Sau Wai), Barnicoat, A. (Angela), Probst, F. (Frank), Magoulas, P. (Pilar), Brooks, A.S. (Alice), Malmgren, H. (Helena), Harila-Saari, A. (Arja), Marcelis, C.M. (Carlo M.), Vreeburg, J.T.M. (Jan), Hobson, E. (Emma), Sutton, V.R. (V. Reid), Stark, Z. (Zornitza), Vogt, J. (Julie), Cooper, N. (Nicola), Lim, J.Y. (Jiin Ying), Price, S. (Susan), Lai, A.H.M. (Angeline Hwei Meeng), Domingo, D. (Deepti), Reversade, B. (Bruno), Gecz, J. (Jozef), Gilissen, C. (Christian), Brunner, H.G. (Han G.), Kini, U. (Usha), Roepman, R. (Ronald), Nordgren, A. (Ann), and Kleefstra, T. (Tjitske)

Abstract

Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Four females from our cohort were identified by targeted genetic testing because their phenotype was suggestive for USP9X mutations. In several females, pigment changes along Blaschko lines and body asymmetry were observed, which is probably related to differential (escape from) X-inactivation between tissues. Expression studies on both mRNA and protein level in affected-female-derived fibroblasts showed significant reduction of USP9X level, confirming the loss-of-function effect of the identified mutations. Given that some features of affected

Published
2016
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3. 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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