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Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Clin Genet 2016; 90(6):550-555CG

Abstract

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+Show Affiliations

Service de Génétique, Hospices Civils de Lyon, Lyon, France. Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France.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. School for Oncology & Developmental Biology (GROW), Maastricht University Medical Centre, Maastricht, the Netherlands.Service de Génétique, Hospices Civils de Lyon, Lyon, France.Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France.Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, 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 Génétique, Hospices Civils de Lyon, Lyon, France.Service de Gynécologie-Obstétrique, Hospices Civils de Lyon, Lyon, France.Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands. School for Oncology & Developmental Biology (GROW), Maastricht University Medical Centre, Maastricht, the Netherlands.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 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.Service de Génétique, Hospices Civils de Lyon, Lyon, France.Service de Génétique, Hospices Civils de Lyon, Lyon, France. Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France.Service de Génétique, Hospices Civils de Lyon, Lyon, France. Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France.Service de Génétique, Hospices Civils de Lyon, Lyon, France. Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

27040866

Citation

Putoux, A, et al. "Refining the Phenotypical and Mutational Spectrum of Taybi-Linder Syndrome." Clinical Genetics, vol. 90, no. 6, 2016, pp. 550-555.
Putoux A, Alqahtani A, Pinson L, et al. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. Clin Genet. 2016;90(6):550-555.
Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A. D., Michel, J., Besson, A., ... Edery, P. (2016). Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. Clinical Genetics, 90(6), pp. 550-555. doi:10.1111/cge.12781.
Putoux A, et al. Refining the Phenotypical and Mutational Spectrum of Taybi-Linder Syndrome. Clin Genet. 2016;90(6):550-555. PubMed PMID: 27040866.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. AU - Putoux,A, AU - Alqahtani,A, AU - Pinson,L, AU - Paulussen,A D C, AU - Michel,J, AU - Besson,A, AU - Mazoyer,S, AU - Borg,I, AU - Nampoothiri,S, AU - Vasiljevic,A, AU - Uwineza,A, AU - Boggio,D, AU - Champion,F, AU - de Die-Smulders,C E, AU - Gardeitchik,T, AU - van Putten,W K, AU - Perez,M J, AU - Musizzano,Y, AU - Razavi,F, AU - Drunat,S, AU - Verloes,A, AU - Hennekam,R, AU - Guibaud,L, AU - Alix,E, AU - Sanlaville,D, AU - Lesca,G, AU - Edery,P, Y1 - 2016/06/02/ PY - 2016/01/14/received PY - 2016/03/19/revised PY - 2016/03/21/accepted PY - 2016/4/5/pubmed PY - 2017/7/8/medline PY - 2016/4/5/entrez KW - RNU4ATAC KW - Taybi-Linder syndrome KW - corpus callosum agenesis KW - dwarfism KW - microcephalic osteodysplastic primordial dwarfisms KW - microcephaly KW - spliceosome SP - 550 EP - 555 JF - Clinical genetics JO - Clin. Genet. VL - 90 IS - 6 N2 - 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. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/27040866/Refining_the_phenotypical_and_mutational_spectrum_of_Taybi_Linder_syndrome_ L2 - https://doi.org/10.1111/cge.12781 DB - PRIME DP - Unbound Medicine ER -