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Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

Autor: Catherine Barrey, Eric H Souied, Sophie Hellé, Vincent Marion, Hélène Dollfus, Charlie De Melo, Marion Gérard, Elise Schaefer, Corinne Stoetzel, Valérie Delague, Aurélie Claussmann, Alain Verloes, Fanny Stutzmann

Publikováno v: Journal of Medical Genetics. 49:317-321

Background Bardet–Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment, and kidney dysfunction. The 16 BBS genes known t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145c4f5a97771da720f27d889408400f
https://doi.org/10.1136/jmedgenet-2012-100737

LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

Autor: Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Di Biagio M; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Carraro L; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Rossetto G; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Scarpelli L; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Scognamillo I; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Valente EM; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Signorini S; Developmental Neuro-Ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63723. Date of Electronic Publication: 2024 May 27.

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 ( BBS17) mutations.

Autor: Schaefer, E., Lauer, J., Durand, M., Pelletier, V., Obringer, C., Claussmann, A., Braun, J.‐J., Redin, C., Mathis, C., Muller, J., Schmidt‐Mutter, C., Flori, E., Marion, V., Stoetzel, C., Dollfus, H.

Publikováno v: Clinical Genetics; May2014, Vol. 85 Issue 5, p476-481, 6p

Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet–Biedl syndrome-like ciliary defects.

Autor: Tasaki, Koshi, Zhou, Zhuang, Ishida, Yamato, Katoh, Yohei, Nakayama, Kazuhisa

Publikováno v: Human Molecular Genetics; 10/1/2023, Vol. 32 Issue 19, p2887-2900, 14p