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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Autor: Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM

Publikováno v: American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3
http://hdl.handle.net/1887/79379

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De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

Autor: Babbs, C, Lloyd, D, Pagnamenta, A, Twigg, SR, Green, J, McGowan, S, Mirza, G, Naples, R, Sharma, V, Volpi, E, Buckle, V, Wall, SA, Knight, S, Parr, JR, Wilkie, A

Publikováno v: Journal of Medical Genetics

BACKGROUND: Autism spectrum disorders (ASDs) are common and have a strong genetic basis, yet the cause of ∼70-80% ASDs remains unknown. By clinical cytogenetic testing, we identified a family in which two brothers had ASD, mild intellectual disabil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8b09a58aa41a2ec791430b9d135b2c40
http://europepmc.org/articles/PMC4215269

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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 22, 1654-62
Human Molecular Genetics, 22, 8, pp. 1654-62
Human Molecular Genetics, 22(8), 1654-1662. Oxford University Press

Contains fulltext : 118112.pdf (Publisher’s version ) (Open Access) Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6454c4691ce436a971e3508f0b88a145
http://europepmc.org/articles/PMC3605834

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Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Autor: Bendon, CL, Fenwick, AL, Hurst, JA, Nürnberg, G, Nürnberg, P, Wall, SA, Wilkie, AO, Johnson, D

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 13, Iss 1, p 104 (2012)

Background Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::635dde9fd3124c6b4a3074da0b2b8699
https://ora.ox.ac.uk/objects/uuid:645a3784-0052-4241-bff7-67d990c994bd

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Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::f7e965552e3e58239ebce3944c5347a5
https://ora.ox.ac.uk/objects/uuid:77a37a71-bbd9-4226-9e31-f65ade6fc9d2

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Familial External Angular Dermoid: Evidence for A Genetic Link?

Autor: McIntyre Jd, Wall Sa, Rannan-Eliya Sv

Publikováno v: Journal of Craniofacial Surgery. 13:311-314

Congenital craniofacial dermoid cysts are hamartomas of ectodermal and mesodermal origin, made up of keratinizing epithelium lining a cavity containing dermal skin appendages. They usually present as an asymptomatic, firm, round mass, usually noticed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ff802c4aeee57d291e01d4a1cba704
https://doi.org/10.1097/00001665-200203000-00025

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