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Your search keyword '"Frédéric, Huet"' showing total 3 results
Start Over Author "Frédéric, Huet" Journal human mutation
3 results on '"Frédéric, Huet"'

1. Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

Author

Alice Masurel, Yannis Duffourd, Bénédicte Gérard, Christiane Zweier, Thomas Arnesen, Bernt Popp, Melissa P. Wasserstein, Cyril Mignot, Nicholas AhMew, Laetitia Lampert, Boris Keren, Jean Baptiste Rivière, Caroline Nava, Laurence Faivre, Chloé Saunier, Marjon van Slegtenhorst, Paul Kuentz, Christel Thauvin-Robinet, Marina Blenski, Svein Isungset Støve, Paula Goldenberg, Amélie Piton, André Reis, Julien Thevenon, Frédéric Huet, Ange Line Bruel, Grazia M.S. Mancini, Kamer Tezcan, Charlotte de Bie, Bruno Leheup, Bertrand Isidor, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Service de pédiatrie (CHU de Dijon), Department of Molecular Biology, University of Bergen ( UIB ), Dpt of Surgery [Bergen], Haukeland University Hospital, Friedrich-Alexander Universität Erlangen-Nürnberg ( FAU ), Laboratoire de Génétique Moléculaire [CHRU Strasbourg], CHRU Strasbourg, Division of Genetics & Metabolism, Children's National Medical Center, Dpt of Genetics [Utrecht], UMC Utrecht, Massachusetts General Hospital [Boston] ( MGH ), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes ( UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Service de Génétique et Cytogénétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Université Pierre et Marie Curie - Paris 6 ( UPMC ), Service de Génétique Médicale [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Nutrition-Génétique et Exposition aux Risques Environnementaux ( NGERE ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lorraine ( UL ), Centre de Référence des Déficiences Intellectuelles de Causes Rares, Kaiser Permanente, ErasmusMC University Medical Center Rotterdam, Dpts of Genetics and Genomic Sciences and Pediatrics [New York], Icahn School of Medicine at Mount Sinai [New York], Université de Bourgogne ( UB ), Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), University of Bergen (UiB), University of Bergen (UiB)-University of Bergen (UiB), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), University Medical Center [Utrecht], Massachusetts General Hospital [Boston], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Université de Bourgogne (UB), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Laboratoire de génétique moléculaire (hôpital général, CHU Dijon), Hôpital général (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), and Clinical Genetics

Subjects
0301 basic medicine, Male, Models, Molecular, Microcephaly, Mutation, Missense, Biology, Germline, KEY WORDS: NAA10, 03 medical and health sciences, Germline mutation, Genes, X-Linked, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, N-Terminal Acetyltransferase E, Genetics (clinical), Genetic Association Studies, Germ-Line Mutation, N-Terminal Acetyltransferase A, Research Articles, X-linked, [SDV.GEN]Life Sciences [q-bio]/Genetics, Regional Council of Burgundy, Mosaicism, N-terminal acetylation, Acetylation, medicine.disease, Phenotype, Pedigree, Ogden Syndrome, X‐linked, 030104 developmental biology, NAA10, intellectual disability, N‐terminal acetylation, Contract grant sponsors: Dijon University Hospital, Female, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, NAA15, Research Article
Abstract

International audience; N-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA have been associated with diverse, syndromic X-linked recessive disorders, whereas de novo missense mutations have been reported in one male and one female individual with severe intellectual disability but otherwise unspecific phenotypes. Thus, the full genetic and clinical spectrum of NAA10 deficiency is yet to be delineated. We identified three different novel and one known missense mutation in NAA10, de novo in 11 females, and due to maternal germ line mosaicism in another girl and her more severely affected and deceased brother. In vitro enzymatic assays for the novel, recurrent mutations p.(Arg83Cys) and p.(Phe128Leu) revealed reduced catalytic activity. X-inactivation was random in five females. The core phenotype of X-linked NAA10-related N-terminal-acetyltransferase deficiency in both males and females includes developmental delay, severe intellectual disability, postnatal growth failure with severe microcephaly, and skeletal or cardiac anomalies. Genotype–phenotype correlations within and between both genders are complex and may include various factors such as location and nature of mutations, enzymatic stability and activity, and X-inactivation in females.

Published
2016
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2. Genomic deletions ofOFD1account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

Author

Eric Bieth, Alice Masurel-Paulet, Bernard Aral, Nadège Gigot, Brunella Franco, Anne Donzel, Mario Tosi, Lionel Van Maldergem, Elodie Gautier, Frédéric Huet, Laurence Faivre, Jean-Raymond Teyssier, Ahmad S. Teebi, Pascale Saugier-Veber, Patrick Callier, Valérie Layet, Thierry Frebourg, James Lespinasse, Francine Mugneret, Christel Thauvin-Robinet, and Michèle Mathieu

Subjects
Genetics, Genetic counseling, Biology, Molecular biology, DNA sequencing, law.invention, Exon, law, Allelic heterogeneity, Human genome, Gene, Genetics (clinical), Exome sequencing, Polymerase chain reaction
Abstract

Oral-facial-digital type I syndrome (OFDI) is characterised by an X-linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, dental and distal abnormalities, polycystic kidney disease and central nervous system malformations. Considerable allelic heterogeneity has been reported within the OFD1 gene, but DNA bi-directional sequencing of the exons and intron-exon boundaries of the OFD1 gene remains negative in more than 20% of cases. We hypothesized that genomic rearrangements could account for the majority of the remaining undiagnosed cases. Thus, we took advantage of two independent available series of patients with OFDI syndrome and negative DNA bi-directional sequencing of the exons and intron-exon boundaries of the OFD1 gene from two different European labs: 13/36 cases from the French lab; 13/95 from the Italian lab. All patients were screened by a semiquantitative fluorescent multiplex method (QFMPSF) and relative quantification by real-time PCR (qPCR). Six OFD1 genomic deletions (exon 5, exons 1-8, exons 1-14, exons 10-11, exons 13-23 and exon 17) were identified, accounting for 5% of OFDI patients and for 23% of patients with negative mutation screening by DNA sequencing. The association of DNA direct sequencing, QFMPSF and qPCR detects OFD1 alteration in up to 85% of patients with a phenotype suggestive of OFDI syndrome. Given the average percentage of large genomic rearrangements (5%), we suggest that dosage methods should be performed in addition to DNA direct sequencing analysis to exclude the involvement of the OFD1 transcript when there are genetic counselling issues.

Published
2008
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3. GLI3 is rarely implicated in OFD syndromes with midline abnormalities

Author

Frédéric Huet, Laurent Pasquier, Magali Avila, Clarisse Baumann, Estelle Lopez, V. Cormier, Julien Thevenon, Patrick Callier, Sandrine Marlin, Alice Masurel-Paulet, Christel Thauvin-Robinet, Bernard Aral, Laurence Faivre, Nadège Gigot, Alice Goldenberg, Laurence Duplomb, Elodie Gautier, Tania Attié-Bitach, and Lucie Gueneau

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Pallister-Hall Syndrome, Kruppel-Like Transcription Factors, Nerve Tissue Proteins, Biology, Bioinformatics, Article, Polydactyly, Mutation, GLI3, Mutation (genetic algorithm), Genetics, Humans, Abnormalities, Multiple, Syndactyly, Genetics (clinical)
Abstract

A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining ninety-three probands here. This includes nineteen probands (twelve mutations) who fulfilled clinical criteria for GCPS or PHS, forty-eight probands (sixteen mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), twenty-one probands (six mutations) with features of PHS or GCPS and oral-facial-digital syndrome and five probands (one mutation) with non-syndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the phenotype-genotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria.

Published
2011
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