Back close

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

Publication Type : Journal Article

Thematic Areas : Medical Sciences

Publisher : Clin Genet

Source : Clin Genet, Volume 90, Issue 6, p.550-555 (2016)

Url :

Keywords : Abnormalities, Multiple, Alleles, Cardiomyopathies, child, Child, Preschool, Dwarfism, female, Fetal Growth Retardation, fetus, Humans, Immunologic Deficiency Syndromes, infant, Infant, Newborn, male, Mental Retardation, X-Linked, microcephaly, Mutation, Osteochondrodysplasias, phenotype, Primary Immunodeficiency Diseases, Retinal Diseases, RNA, Small Nuclear, Spliceosomes

Campus : Kochi

School : School of Medicine

Department : Paediatrics

Year : 2016

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.

Cite this Research Publication : A. Putoux, Alqahtani, A., Pinson, L., Paulussen, A. D. C., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., de Die-Smulders, C. E., Gardeitchik, T., van Putten, W. K., Perez, M. J., Musizzano, Y., Razavi, F., Drunat, S., Verloes, A., Hennekam, R., Guibaud, L., Alix, E., Sanlaville, D., Lesca, G., and Edery, P., “Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.”, Clin Genet, vol. 90, no. 6, pp. 550-555, 2016.

Admissions Apply Now