NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Autor: Kun Xia, Samantha Ayres, Amber Begtrup, Danielle Karlowicz, Raphael Bernier, Ahood Alsulaiman, Frédéric Bilan, Rebecca Hernan, Elena Savva, Fowzan S. Alkuraya, Ingrid M. Wentzensen, Mohammad A. Al-Muhaizea, Audrey Labalme, Sumit Punj, Jenny Meylan Merlini, Evan E. Eichler, Lucile Letienne-Cejudo, Alexia Boizot, Natasha J Brown, Emily Bryant, Senwei Tan, Wendy K. Chung, Bin Yu, Inken Dreyer, Maria J. Guillen Sacoto, Jieqiong Tan, Hilde Peeters, Xiangbin Jia, Inge Lore Ruiz-Arana, Brina Daniels, Elizabeth A. Sellars, Linda Pons, Jianjun Ou, Rujia Dai, Guodong Chen, Gaetan Lesca, Lindsay Rhodes, Anne chun-hui Tsai, Chao Chen, Marie T. McDonald, Linda Laux, Kendra Hoekzema, Hui Guo, Christina Fagerberg, Bradley Schaefer, Huidan Wu, Rhonda E. Schnur, Qiumeng Zhang, Federico Santoni, Qian Pan, Rose B. McGee, Lucia Bartoloni, Brigitte Gilbert-Dussardier, Zhengmao Hu, Charlotte Brasch-Andersen, Dhamidhu Eratne, Valerie Slegesky, Lori A. Carpenter

Publikováno v: Am J Hum Genet
Guo, H, Zhang, Q, Dai, R, Yu, B, Hoekzema, K, Tan, J, Tan, S, Jia, X, Chung, W K, Hernan, R, Alkuraya, F S, Alsulaiman, A, Al-Muhaizea, M A, Lesca, G, Pons, L, Labalme, A, Laux, L, Bryant, E, Brown, N J, Savva, E, Ayres, S, Eratne, D, Peeters, H, Bilan, F, Letienne-Cejudo, L, Gilbert-Dussardier, B, Ruiz-Arana, I L, Merlini, J M, Boizot, A, Bartoloni, L, Santoni, F, Karlowicz, D, McDonald, M, Wu, H, Hu, Z, Chen, G, Ou, J, Brasch-Andersen, C, Fagerberg, C R, Dreyer, I, chun-hui Tsai, A, Slegesky, V, McGee, R B, Daniels, B, Sellars, E A, Carpenter, L A, Schaefer, B, Sacoto, M J G, Begtrup, A, Schnur, R E, Punj, S, Wentzensen, I M, Rhodes, L, Pan, Q, Bernier, R A, Chen, C, Eichler, E E & Xia, K 2020, ' NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism ', American Journal of Human Genetics, vol. 107, no. 5, pp. 963-976 . https://doi.org/10.1016/j.ajhg.2020.10.002

NCKAP1/NAP1 regulates neuronal cytoskeletal dynamics and is essential for neuronal differentiation in the developing brain. Deleterious variants in NCKAP1 have been identified in individuals with autism spectrum disorder (ASD) and intellectual disabi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff727f5e121f299c8cce51056835c29
https://europepmc.org/articles/PMC7674997/

A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis

Autor: Birgit Köhler, Angela Hübner, Heiko Krude, Cigdem Cetingdag, Annette Grüters, Heike Biebermann, Maki Fukami, Inge-Lore Ruiz-Arana

Publikováno v: Sexual Development. 9:80-85

MAMLD1 is suggested to play a role in the development of 46,XY disorders of sexual development (46,XY DSD). So far, mutations in this gene have been detected in several cases of hypospadias with normal testosterone levels at birth. From in vitro stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a2f74d3062849817f5b719695fd12e6b
https://doi.org/10.1159/000371603