on THe origin of PonToCereBeLLar HyPoPLasia: finding genes for a rare disease

2 TOE1 mutatiOns cause POntOcerebellar hyPOPlasia and disOrders Of sex deVelOPment

3 EXOSC3 mutatiOns in POntOcerebellar hyPOPlasia tyPe 1: nOVel mutatiOns and genOtyPe-PhenOtyPe cOrrelatiOns

The findings imply a clear correlation between genetic mutation and clinical outcome in EXOSC3 mediated PCH, including variable involvement of the pons, including variable involvement of the pons.

TTC21B: From Modifier to Causative Gene in Joubert Syndrome.

Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with...

AKU eCommons

Witteveen-Kolk Syndrome: Two Patients With Craniofacial Features and Novel SIN3A Variants.

Witteveen-Kolk syndrome (WKS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic SIN3A variants, with diagnosis complicated by variable physical findings. We describe two unrelated patients with de novo SIN3A variants identified through trio whole exome sequencing, expanding the phenotype of...

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest...