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Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

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Title: Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
Authors: Boutaud L; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Li C; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Moncler C; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France., Verlin L; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France., Garfa-Traoré M; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Paris University, Paris, France., Bourgon N; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Akbari D; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Porée J; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Paris University, Paris, France., Serpieri V; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Panza M; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Paris University, Paris, France., Haddad L; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Nitschké P; Imagine Institute, Bioinformatics Platform, INSERM UMR 1163, Université de Paris, Paris, France., Aziza J; Département de Pathologie, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France., Matt C; Seccion de Genética Médica del Centro de Educación Médica e Investigaciones Clínicas 'Norberto Quirno', CP (C1431FWO), Buenos Aires, Argentina., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS, Mondino Foundation, Pavia, Italy., Gargallo P; Seccion de Genética Médica del Centro de Educación Médica e Investigaciones Clínicas 'Norberto Quirno', CP (C1431FWO), Buenos Aires, Argentina., Dubucs C; Département de Pathologie, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France., Attié-Bitach T; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Leroux MR; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Thomas S; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.
Source: Clinical genetics [Clin Genet] 2026 Feb; Vol. 109 (2), pp. 305-315. Date of Electronic Publication: 2025 Aug 21.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
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  Data: Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
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  Data: <searchLink fieldCode="AU" term="%22Boutaud+L%22">Boutaud L</searchLink>; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Li+C%22">Li C</searchLink>; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Moncler+C%22">Moncler C</searchLink>; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Verlin+L%22">Verlin L</searchLink>; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Garfa-Traoré+M%22">Garfa-Traoré M</searchLink>; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Paris University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bourgon+N%22">Bourgon N</searchLink>; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Akbari+D%22">Akbari D</searchLink>; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Porée+J%22">Porée J</searchLink>; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Paris University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Panza+M%22">Panza M</searchLink>; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Paris University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Haddad+L%22">Haddad L</searchLink>; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nitschké+P%22">Nitschké P</searchLink>; Imagine Institute, Bioinformatics Platform, INSERM UMR 1163, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Aziza+J%22">Aziza J</searchLink>; Département de Pathologie, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Matt+C%22">Matt C</searchLink>; Seccion de Genética Médica del Centro de Educación Médica e Investigaciones Clínicas 'Norberto Quirno', CP (C1431FWO), Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS, Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Gargallo+P%22">Gargallo P</searchLink>; Seccion de Genética Médica del Centro de Educación Médica e Investigaciones Clínicas 'Norberto Quirno', CP (C1431FWO), Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Dubucs+C%22">Dubucs C</searchLink>; Département de Pathologie, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Attié-Bitach+T%22">Attié-Bitach T</searchLink>; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Leroux+MR%22">Leroux MR</searchLink>; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Thomas+S%22">Thomas S</searchLink>; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2026 Feb; Vol. 109 (2), pp. 305-315. <i>Date of Electronic Publication: </i>2025 Aug 21.
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