A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

Autor: Pagnamenta, A, Murakami, Y, Anzilotti, C, Titheradge, H, Oates, A, Morton, J, Study, DDD, Kinoshita, T, Kini, U, Taylor, J

Defective glycosylphosphatidylinositol (GPI)‐anchor biogenesis can cause a spectrum of predominantly neurological problems. For eight genes critical to this biological process, disease associations are not yet reported. Scanning exomes from 7,833 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2a54850dc950b1fc34f9af8e9ced185

Phenotype of CNTNAP1:a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

Autor: Low, K. J., Stals, K., Caswell, R., Wakeling, M., Clayton-Smith, J., Donaldson, A., Foulds, N., Norman, A., Splitt, M., Urankar, K., Vijayakumar, K., Majumdar, A., Study, DDD, Ellard, S., Smithson, S. F.

Publikováno v: Low, K J, Stals, K, Caswell, R, Wakeling, M, Clayton-Smith, J, Donaldson, A, Foulds, N, Norman, A, Splitt, M, Urankar, K, Vijayakumar, K, Majumdar, A, Study, DDD, Ellard, S & Smithson, S F 2018, ' Phenotype of CNTNAP1 : a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy ', European Journal of Human Genetics, vol. 26, no. 6, pp. 796-807 . https://doi.org/10.1038/s41431-018-0110-x
Low, K J, Stals, K, Caswell, R, Wakeling, M, Clayton-Smith, J, Donaldson, A, Foulds, N, Norman, A, Splitt, M, Urankar, K, Vijayakumar, K, Majumdar, A, Study, DDD, Ellard, S & Smithson, S F 2018, ' Phenotype of CNTNAP1 : a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy ', European Journal of Human Genetics, pp. 1-12 . https://doi.org/10.1038/s41431-018-0110-x

CHN is genetically heterogeneous and its genetic basis is difficult to determine on features alone. CNTNAP1 encodes CASPR, integral in the paranodal junction high molecular mass complex. Nineteen individuals with biallelic variants have been describe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::941bd913235c364e00cde5d8558cdc06
https://hdl.handle.net/1983/0ca0894c-573c-4e7c-99a6-a808be6e7ee1

Not all SCN1A epileptic encephalopathies are Dravet syndrome

Autor: Sadleir, L.G., Mountier, E.I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M.A., Mandelstam, S., Wirrell, E., Nickels, K.C., Murali, H.R., Carvill, G., Myers, C.T., Mefford, H.C., Scheffer, I.E., Study, DDD.

Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.\ud \ud Methods: A case series of 9 children were identified with a profound developmental and epileptic enc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6b3aed0e0c20884888157c0e9cdf38f2

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Autor: Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y. T., Mcgowan, Ruth, Des Medt, Maryse, O'Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Study, Ddd, Woolf, Adrian S., Banka, Siddharth

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (6), pp.1021-1033. ⟨10.1016/j.ajhg.2017.11.006⟩
AMERICAN JOURNAL OF HUMAN GENETICS
Cuvertino, S, Stuart, H, Chandler, K E, Roberts, N, Armstrong, R, Bernardini, L, Bhaskar, S, Callewaert, B, Clayton-Smith, J, Hernando Davalillo, C, Deshpande, C, Devriendt, K, Digilio, M C, Dixit, A, Edwards, M, Friedman, J M, Gonzalez-Meneses, A, Joss, S, Kerr, B, Lampe, A K, Langlois, S, Lennon, R, Loget, P, Ma, D Y T, Ruth, M, Des Medt, M, O'Sullivan, J, Odent, S, Parker, M J, Pebrel-Richard, C, Petit, F, Stark, Z, Stockler-Ipsiroglu, S, Tinschert, S, Vasudevan, P, Villa, O, White, S M, Zahir, F R, study, T DDD, Woolf, A S & Banka, S 2017, ' ACTB loss-of-function mutations result in a pleiotropic developmental disorder ', American Journal of Human Genetics, vol. 101, no. 6, pp. 1021-1033 . https://doi.org/10.1016/j.ajhg.2017.11.006
American Journal of Human Genetics, 2017, 101 (6), pp.1021-1033. ⟨10.1016/j.ajhg.2017.11.006⟩

ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6f609dbbe66ece9116e090ada0b0f1dc
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01699166

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Autor: Beunders, Gea, van de Kamp, Jiddeke, Vasudevan, Pradeep, Morton, Jenny, Smets, Katrien, Kleefstra, Tjitske, de Munnik, Sonja A., Schuurs-Hoeijmakers, Janneke, Ceulemans, Berten, Zollino, Marcella, Hoffjan, Sabine, Wieczorek, Stefan, So, Joyce, Mercer, Leanne, Walker, Tanya, Velsher, Lea, Parker, Michael J., Magee, Alex C., Elffers, Bart, Frank Kooy, R., Yntema, Helger G., Meijers-Heijboer, Elizabeth J., Sistermans, Erik A., The DDD study, DDD study

Publikováno v: Journal of Medical Genetics, 53, 523-32
Beunders, G, van de Kamp, J, Vasudevan, P, Morton, J, Smets, K, Kleefstra, T, de Munnik, S A, Schuurs-Hoeijmakers, J, Ceulemans, B, Zollino, M, Hoffjan, S, Wieczorek, S, So, J, Mercer, L, Walker, T, Velsher, L, Parker, M J, Magee, A C, Elffers, B, Frank Kooy, R, Yntema, H G, Meijers-Heijboer, E J, Sistermans, E A & The DDD study, DDD S 2016, ' A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype ', Journal of Medical Genetics, vol. 53, no. 8, pp. 523-532 . https://doi.org/10.1136/jmedgenet-2015-103601
Journal of Medical Genetics, 53(8), 523-532. BMJ Publishing Group
Journal of Medical Genetics, 53, 8, pp. 523-32
Journal of medical genetics

Item does not contain fulltext BACKGROUND: AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::176c3925e898f5bdaaf4ae185a27f188
http://hdl.handle.net/2066/167695