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4 results on '"Julie Litzler"'

1. High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

Author

Kheira Mezouaghi, Marie-Line Jacquemont, Julie Litzler, Natalie Loundon, Souad Gherbi, Jean-Paul Bonnefont, Ines Ben Aissa, Justine Lerat, Françoise Denoyelle, François Cartault, Françoise Darcel, Laurence Jonard, Isabelle Rouillon, Crystel Bonnet, Fabienne Saint James Digeon, Emmanuelle Génin, Agnès Guichet, Sandrine Marlin, Erea-Noel Garabedian, Roselyne Gesny, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Service de génétique moléculaire [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Otorhinolaryngologie [CHU Limoges], Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de génétique, Centre hospitalier Félix Guyon, Bellepierre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neurologie, CHR Réunion, Service d'ORL pédiatrique et Chirurgie Cervico-faciale [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), and PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)

Subjects
Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Profound deafness, Bilateral Vestibulopathy, [SDV]Life Sciences [q-bio], Motor Disorders, Deafness, 030105 genetics & heredity, Biology, Compound heterozygosity, Frameshift mutation, Mice, 03 medical and health sciences, Exome Sequencing, Electroretinography, otorhinolaryngologic diseases, Genetics, medicine, Animals, Humans, Frameshift Mutation, Genetics (clinical), Vestibular areflexia, High prevalence, Homozygote, Infant, Membrane Proteins, Pedigree, Indian ocean, 030104 developmental biology, Female, Tomography, X-Ray Computed, Founder effect
Abstract

International audience; Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the mainland France. Twelve children having isolated bilateral prelingual profound deafness along with motor delay attributed to vestibular areflexia were enrolled. Their mean walking age was 19 months. Electroretinography and temporal bone CT-scans were normal in all cases. A novel homozygous frameshift lipoma HMGIC fusion partner-like 5 (LHFPL5) variant c.185delT p.(Phe62Serfs*23) was identified using whole-exome sequencing. It was found in seven families. Four patients from two different families from both Reunion Island and mainland France, were compound heterozygous: c.185delT p.(Phe62Serfs*23) and c.472C > T p.(Arg158Trp). The phenotype observed in our patients completely mimics the hurry-scurry (hscy) murine Tmhs knock-out model. The recurrent occurrence of same LHFPL5 variant in Reunion Island is attributed to common ancestor couple born in 1693.

Published
2018

2. Author response for 'High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5'

Author

null Justine Lerat, null Crystel Bonnet, null François Cartault, null Natalie Loundon, null Marie-Line Jacquemont, null Françoise Darcel, null Isabelle Rouillon, null Kheira Mezouaghi, null Agnes Guichet, null Julie Litzler, null Roselyne Gesny, null Souad Gherbi, null Ines B.E.N. Aissa, null Fabienne S.A.I.N.T.J.A.M.E.S. Digeon, null Eréa-Nöel Garabedian, null Jean-Paul Bonnefont, null Emmanuelle Genin, null Françoise Denoyelle, null Laurence Jonard, and null Sandrine Marlin

Subjects
High prevalence, Geography, Demography
Published
2018

3. A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Author

Tania Attié-Bitach, Sophie Saunier, Mandy Kwong, Nadia Elkhartoufi, Enza Maria Valente, Isabelle Perrault, Joseph G. Gleeson, Alessia Micalizzi, Stéphanie Le Corre, Marta Romani, Julie Litzler, Lydie Burglen, Iain A. Drummond, Kevin J. Wright, Avinash Abhyankar, Julien Saada, Jean-Laurent Casanova, Stanislas Lyonnet, Nathalie Boddaert, Nicolas Chassaing, Arnold Munnich, Jeanne Amiel, Peter K. Jackson, Emilie Filhol, Michel Vekemans, Ferechté Encha-Ravazi, Wolfgang Baehr, Sophie Thomas, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Genentech, Inc., Genentech, Inc. [San Francisco], Massachusetts General Hospital [Boston], Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Universita degli Studi di Messina, Rockefeller University [New York], AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], CHU Necker - Enfants Malades [AP-HP], Génétique Humaine des Maladies Infectieuses (Inserm U980), Service de radiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Utah, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], Howard Hughes Medical Institute (HHMI), University of California [San Diego] (UC San Diego), University of California, and Harvard Medical School [Boston] (HMS)

Subjects
Male, Models, Molecular, Proteomics, MESH: Sequence Analysis, DNA, MESH: Cilia / metabolism, MESH: Cerebellar Diseases / genetics, Mutant, INPP5E, Ciliopathies, MESH: Phosphoric Monoester Hydrolases / metabolism, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Cerebellum, MESH: Cyclic Nucleotide Phosphodiesterases, Type 6 / genetics, Exome, MESH: Animals, Eye Abnormalities, Genetics (clinical), Exome sequencing, Zebrafish, Genetics, 0303 health sciences, MESH: Exome, MESH: Protein Prenylation, Splice site mutation, ADP-Ribosylation Factors, MESH: ADP-Ribosylation Factors / metabolism, Cilium, MESH: Proteomics, Homozygote, MESH: Genetic Predisposition to Disease, MESH: Kidney Diseases, Cystic / genetics, prenylation, Kidney Diseases, Cystic, Pedigree, Female, MESH: Models, Molecular, MESH: Homozygote, MESH: Abnormalities, Multiple, MESH: Zebrafish Proteins / metabolism, PDE6D, MESH: Pedigree, Protein Prenylation, Biology, MESH: Retina / metabolism, MESH: Zebrafish / abnormalities, Joubert syndrome, Article, Retina, MESH: Zebrafish / genetics, 03 medical and health sciences, MESH: Cyclic Nucleotide Phosphodiesterases, Type 6 / metabolism, primary cilia, MESH: Cerebellar Diseases / metabolism, Cerebellar Diseases, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, MESH: Retina / abnormalities, MESH: Eye Abnormalities / metabolism, Cilia, 030304 developmental biology, Cyclic Nucleotide Phosphodiesterases, Type 6, MESH: Humans, Sequence Analysis, DNA, Zebrafish Proteins, medicine.disease, MESH: Cerebellum / abnormalities, Phosphoric Monoester Hydrolases, MESH: Male, MESH: Phosphoric Monoester Hydrolases / genetics, MESH: Eye Abnormalities / genetics, Protein prenylation, MESH: Zebrafish Proteins / genetics, MESH: Female, 030217 neurology & neurosurgery, MESH: Kidney Diseases, Cystic / metabolism
Abstract

International audience; Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the << molar tooth sign >>. JS is genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia biogenesis and/or function. In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6D, encoding a prenyl-binding protein. We found that pde6d depletion in zebrafish leads to renal and retinal developmental anomalies and wild-type but not mutant PDE6D is able to rescue this phenotype. Proteomic analysis identified INPP5E, whose mutations also lead to JS or mental retardation, obesity, congenital retinal dystrophy, and micropenis syndromes, as novel prenyl-dependent cargo of PDE6D. Mutant PDE6D shows reduced binding to INPP5E, which fails to localize to primary cilia in patient fibroblasts and tissues. Furthermore, mutant PDE6D is unable to bind to GTP-bound ARL3, which acts as a cargo-release factor for PDE6D-bound INPP5E. Altogether, these results indicate that PDE6D is required for INPP5E ciliary targeting and suggest a broader role for PDE6D in targeting other prenylated proteins to the cilia. This study identifies PDE6D as a novel JS disease gene and provides the first evidence of prenyl-binding-dependent trafficking in ciliopathies.

Published
2014

4. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

Author

Valérie Cormier-Daire, Philip L. Beales, Férechté Encha-Razavi, Albert Schinzel, Anita Rauch, Nathalie Boddaert, Audrey Putoux, Caroline Alby, Julie Litzler, Sheela Nampoothiri, Deborah Bartholdi, Nadia Elkhartoufi, Rajesh Kannan, Tania Attié-Bitach, Nicole Laurent, Laurence Faivre, Sophie Thomas, Amale Ichkou, Arnold Munnich, and Michel Vekemans

Subjects
Male, Acrocallosal Syndrome, Kinesins, Dysgenesis, Fetus, Intellectual Disability, Genetics, medicine, Humans, Craniofacial, Hypertelorism, Genetics (clinical), Polydactyly, Corpus Callosum Agenesis, business.industry, Anatomy, Middle Aged, medicine.disease, Acrocallosal syndrome, Hypoplasia, Phenotype, Agenesis, Child, Preschool, Mutation, Female, medicine.symptom, Agenesis of Corpus Callosum, business
Abstract

Background Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathway, as being responsible for this syndrome. Methods We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies. Results Seven mutations were identified at the KIF7 locus in these five cases, six of which are novel. We describe the first four compound heterozygous cases. In all patients, the diagnosis was suspected based on the craniofacial features, despite the absence of corpus callosum anomaly in one and of polydactyly in another. Hallux duplication was absent in 4/5 cases. Conclusions These results show that ACLS has a variable expressivity and can be diagnosed even in the absence of the two major features, namely polydactyly or agenesis or hypoplasia of the corpus callosum. Facial dysmorphism with hypertelorism and prominent forehead in all the cases, as well as vermis dysgenesis with brainstem anomalies (molar tooth sign), strongly indicated the diagnosis. KIF7 should be tested in less typical patients in whom craniofacial features are suggestive of ACLS.

Published
2012

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