Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

Journal: Clinical genetics

Volume: 90

Issue: 6

Year of Publication: 2017

Affiliated Institutions:  Service de Génétique, Hospices Civils de Lyon, Lyon, France. Département de Génétique Médicale, Centre Hospitalier Universitaire, Montpellier, France. Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands. Centre de Recherche en Neurosciences de Lyon, INSERM U, UMR CNRS , Université Claude Bernard Lyon , Lyon, France. Department of Pathology, University of Malta, Medical Genetics Unit, Mater Dei Hospital, Malta. Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India. Centre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon, Lyon, France. Centre for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda. Service de Gynécologie-Obstétrique, Hospices Civils de Lyon, Lyon, France. Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands. Paediatric Intensive Care Unit, Radboud University Medical Centre, Nijmegen, the Netherlands. Département de Génétique Médicale, Unité de fœtopathologie, Centre Hospitalier Universitaire, Montpellier, France. Département de Pathologie Tissulaire et Cellulaire des tumeurs, Pôle Biologie Pathologie, Centre Hospitalier Universitaire, Montpellier, France. Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfant Malade, Paris, France. Department of Genetics, APHP-Robert DEBRE University Hospital, and Paris-Diderot University, Paris, France. Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands. Département d'Imagerie Pédiatrique et Fœtale, Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Lyon-Bron, France.

Abstract summary 

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nuclear RNA which is a critical component of the minor spliceosome. We report here four foetuses and four unrelated patients with RNU4ATAC mutations. We provide antenatal descriptions of this rare syndrome including unusual features found in two twin foetuses with compound heterozygosity for two rare mutations who presented with mild intrauterine growth retardation and atypical dysmorphic facial features. We also carried out a literature review of the patients described up to now with RNU4ATAC mutations, affected either with TALS or Roifman syndrome, a recently described allelic disorder.

Authors & Co-authors:  Putoux A A Alqahtani A A Pinson L L Paulussen A D C AD Michel J J Besson A A Mazoyer S S Borg I I Nampoothiri S S Vasiljevic A A Uwineza A A Boggio D D Champion F F de Die-Smulders C E CE Gardeitchik T T van Putten W K WK Perez M J MJ Musizzano Y Y Razavi F F Drunat S S Verloes A A Hennekam R R Guibaud L L Alix E E Sanlaville D D Lesca G G Edery P P

Study Outcome 

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Statistics
Citations : 
Authors :  27
Identifiers
Doi : 10.1111/cge.12781
SSN : 1399-0004
Study Population
Male,Female
Mesh Terms
Abnormalities, Multiple
Other Terms
RNU4ATAC;Taybi-Linder syndrome;corpus callosum agenesis;dwarfism;microcephalic osteodysplastic primordial dwarfisms;microcephaly;spliceosome
Study Design
Study Approach
Country of Study
Mali
Publication Country
Denmark