| Title: |
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome |
| Authors: |
Putoux, Audrey; Alqahtani, Amerh Salem; Pinson, Lucile; Paulussen, Aimée D.C.; Michel, Jessica; Besson, Alicia; Mazoyer, Sylvie; Borg, Isabella; Nampoothiri, Sheela; Vasiljevic, Alexandre; Uwineza, Annette; Boggio, Dominique; Champion, Fabienne; de Die – Smulders, Christine E.M.; Gardeitchik, Thatjana; van Putten, W. K.; Perez, Marie Josée; Musizzano, Yuri; Razavi, Ferechté; Drunat, Sèverine; Verloès, Alain; Hennekam, Raoul C.M.; Guibaud, Laurent; Alix, Eudeline; Sanlaville, Damien; Lesca, Gaëtan; Edery, Patrick |
| Publisher Information: |
John Wiley & Sons, Inc. |
| Publication Year: |
2016 |
| Collection: |
University of Malta: OAR@UM / L-Università ta' Malta |
| Subject Terms: |
Dwarfism -- Case studies; Growth disorders; Rare diseases -- Genetic aspects |
| Description: |
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. ; peer-reviewed |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
https://www.um.edu.mt/library/oar/handle/123456789/132843 |
| DOI: |
10.1111/cge.12781 |
| Availability: |
https://www.um.edu.mt/library/oar/handle/123456789/132843; https://doi.org/10.1111/cge.12781 |
| Rights: |
info:eu-repo/semantics/restrictedAccess ; The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. |
| Accession Number: |
edsbas.277C3D0D |
| Database: |
BASE |