NCT03222947

New Variants Involved in Taybi-Linder Syndrome

Identification of New Genes Involved in the Taybi-Linder Syndrome.

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 19 (estimated)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Taybi Linder Syndrome
• Genetic Syndrome

Interventions

Type	Name	Description
GENETIC	Deoxyribonucleic acid analysis	This study consists in the high throughput exome sequencing and subsequent genetic bio-analysis of 19 deoxyribonucleic acid samples from 6 families, already collected and consented, including patients diagnosed with a Taybi-Linder syndrome and their relatives (parents and/or siblings).

Timeline

• Start date: 2017-09-01
• Primary completion: 2018-05-01
• Completion: 2018-06-01
• First posted: 2017-07-19
• Last updated: 2017-07-19

Locations

1 site across 1 country: France