Recurrent 'outsider' intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

Autor: Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Benoît Funalot, Isabelle Desguerre

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Sodium dependent multivitamin transporter (SMVT) deficiency is a very rare autosomal recessive disorder characterized by multisystemic clinical manifestations due to combined biotin, panthotenic acid and lipoic acid deficiency. About 10 families have

Externí odkaz: https://doaj.org/article/996c5f2b1d304ade96264a8eba265cad

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

Autor: Hernandez P, Gilbert-Dussardier B, Boris Keren, Ai X, Eric L. Bogenschutz, J. Wells, Zeynep Coban-Akdemir, Julia Wynn, Frédéric Frénois, Contreras Htm, Lupski, Andres Hernandez-Garcia, Ropers Hh, Lu Qiao, Florence Petit, Yonath H, Richard S. Maser, Anne-Sophie Jourdain, Delrue M, Giampietro Pf, Clark Rd, Wendy K. Chung, Harrison Brand, McCulley D, Tiana M. Scott, Mauro Longoni, Bult Cj, Patricia K. Donahoe, Barbara R. Pober, Frances A. High, Rebecca Hernan, Maria Loscertales, Yufeng Shen, Daryl A. Scott, Devisme L, Dysart Mj, Daniel G. Calame, Hu H

Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with a novel X-linked condition characterized by dia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1b87ddad8d2b0da56dd83ec489239f18
https://doi.org/10.1101/2021.07.07.21259278

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Autor: Florence Petit, Clémence Vanlerberghe, Thomas Smol, Fabienne Giuliano, M.F. Odou, Sylvie Manouvrier-Hanu, Perrine Brunelle, William Dufour, Malika Balduyck, Fabienne Escande, Jamal Ghoumid, Marion Gérard, Philippe Khau Van Kien, Gilles Morin, Cindy Colson, Alice Goldenberg, Elise Brischoux-Boucher, Anne Dieux, Daphné Lehalle, Anne-Sophie Jourdain, Sébastien Moutton, Simon Boussion

Publikováno v: Human Mutation
Human Mutation, Wiley, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩
Human Mutation, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩

International audience; Congenital limb malformations (CLM) comprise many conditions affecting limbs and more than 150 associated genes have been reported. Due to this large heterogeneity, a high proportion of patients remains without a molecular dia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::442a321a046abc8e34efc6fb91cfcacc
https://hal.archives-ouvertes.fr/hal-02393697

Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods

Autor: Catherine Cardot-Bauters, Michel Crépin, Pascal Plouvier, Pascal Pigny, Stéphane Richard, Emilie Ait Yahya, Brigitte Bressac-de Paillerets, Lucie Coppin, Sophie Lejeune, Anne-Sophie Jourdain, Julie Leclerc

Publikováno v: Journal of Molecular Diagnostics
Journal of Molecular Diagnostics, 2019, 21, pp.462-470. ⟨10.1016/j.jmoldx.2019.01.005⟩
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), 2019, 21, pp.462-470. ⟨10.1016/j.jmoldx.2019.01.005⟩

Von Hippel-Lindau disease (VHL) is a monogenic disorder characterized by the development of tumors affecting the central nervous system, kidney, pancreas, or adrenal glands, and due to germline mutations in the VHL tumor suppressor gene. About 5% of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c43f52c86e2e147c56ba834992d7d072
https://hal.archives-ouvertes.fr/hal-03486408/file/S1525157818302599.pdf

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

Autor: Nicole Porchet, Muriel Holder-Espinasse, Boris Keren, Florence Petit, Fabienne Escande, Sylvie Manouvrier-Hanu, Martine Duterque-Coquillaud, Joris Andrieux, Anne-Sophie Jourdain

Publikováno v: European Journal of Human Genetics. 24:37-43

The expression gradient of the morphogen Sonic Hedgehog (SHH) is crucial in establishing the number and the identity of the digits during anteroposterior patterning of the limb. Its anterior ectopic expression is responsible for preaxial polydactyly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::578b2ae774160baa63c0ef1657d16d1c
https://doi.org/10.1038/ejhg.2015.53