Condition: Taybi Linder Syndrome · Microcephalic Osteodysplastic Primordial Dwarfism Types I and III · Roifman Syndrome · Sponsor: Hospices Civils de Lyon
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns. The minor spliceosome comprises its own set of snRNAs, among which U4atac. Its non-coding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS), Roifman (RFMN) and Lowry-Wood syndromes (LWS). These rare developmental disorders associate ante- and post-natal growth retardation, microcephaly, skeletal dysplasia, intellectual disability, retinal dystrophy and immunodeficiency. Their physiopathological mechanisms remain unsolved: the number of U12 genes involved, their identity and function, or the cellular mechanisms impacted by the splicing defect, are still unknown. The hypothesis of the study is that U12 genes coding for primary cilia components are particularly sensitive to minor splicing defects caused by RNU4ATAC mutations. Indeed, a child showing signs of TALS but negative for RNU4ATAC was found to carry a homozygous variant in the RTTN gene, coding for the rotatin protein located at the centrosome and the base of the primary cilia and playing a role in maintaining these structures. In addition, bi-allelic RNU4ATAC mutations were identified in five patients presenting with traits suggestive of the Joubert syndrome (JBTS), a well-characterized ciliopathy. These patients also present with traits typical of TALS/RFMN/LWS. To better understand the causes of these pathologies, a cohort of patients with syn…
This description comes directly from the study's public registry record.
Sylvie MAZOYER, Dr · 04 81 10 65 33 · sylvie.mazoyer@inserm.fr
Patrick EDERY, Pr · 04 72 12 96 98 · charles-patrick.edery@chu-lyon.fr
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| Centre de référence des anomalies du développement et syndromes malformatifs du Sud-Ouest Occitanie Réunion, CHU de Bordeaux-GH Pellegrin | Bordeaux, France | Not Yet Recruiting |
| Centre de référence anomalies du développement de Lyon, Hôpital Femme Mère Enfant | Bron, France | Recruiting |
| Centre de référence des anomalies du développement et syndromes malformatifs de l'Est, CHU de DIJON | Dijon, France | Not Yet Recruiting |
| Centre de référence des anomalies du développement et syndromes malformatifs de l'inter région Nord-Ouest, Hôpital J de Flandre | Lille, France | Not Yet Recruiting |
| Unité Fonctionelle d'embryo-fœtopathologie, Hôpital Necker-Enfants Malades | Paris, France | Not Yet Recruiting |
| Centre de référence des anomalies du développement et syndromes malformatifs de l'Ouest, Hôpital Sud | Rennes, France | Not Yet Recruiting |
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Source record: clinicaltrials.gov/study/NCT06111950