Publications by authors named "Julie Litzler"
Article Synopsis
- Reunion Island has a higher prevalence of deafness (1.6/1000) compared to mainland France, with a study involving twelve children who have isolated bilateral prelingual profound deafness and vestibular issues.
- These children had normal results in electroretinography and temporal bone CT scans, and a novel genetic mutation (LHFPL5) was identified through whole-exome sequencing in several families.
- The presence of the same genetic variant in multiple families is linked to a common ancestor from 1693, and the patients' condition resembles a known murine model of hearing loss.
Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the << molar tooth sign >>. JS is genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia biogenesis and/or function. In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6D, encoding a prenyl-binding protein.
View Article and Find Full Text PDFBackground: Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathway, as being responsible for this syndrome.
Methods: We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies.