Genetic Syndrome Clinical Trial
Official title:
Identification of New Genes Involved in the Taybi-Linder Syndrome.
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. Although
RNU4ATAC-associated TALS is a recognizable phenotype, an atypical presentation is sometimes
observed, thus expanding the clinical spectrum (TALS-like phenotype).
This study aims to identify new variants involved in Taybi-Linder syndrome and associated
phenotypes (i.e.TALS-like).
This non interventional study will be performed on patients with no proven mutation of
RNU4ATAC and their blood relatives (19 samples total) by high throughput sequencing and
genetic analysis of already collected deoxyribonucleic acid samples.
Altogether, such a study will allow a better understanding of the molecular mechanisms
responsible for the Taybi-Linder syndrome and Taybi-Linder syndrome-like phenotypes as well
as the pathophysiology of these devastating forms of microcephalic dwarfism.
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