Publications by authors named "S Antonarakis"
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.
View Article and Find Full Text PDFArticle Synopsis
- - The study investigates the retinal phenotype in two siblings with new genetic variants linked to hereditary spastic paraplegia type 56 (HSP 56), which resemble type 2 macular telangiectasis (MacTel).
- - Five family members underwent extensive ophthalmic evaluations and genetic testing, revealing that the affected siblings exhibited specific retinal anomalies, including loss of retinal transparency and abnormal pigment distribution.
- - The findings suggest a potential connection between the observed retinal issues and the genetic variants, indicating a shared pathway in the development of both MacTel and the hereditary condition.
Article Synopsis
- Hypomyelinating leukodystrophies are genetic disorders with severe myelin deficiency, resulting in developmental delays, nystagmus, hypotonia, spasticity, and ataxia.
- Variants in the HSP60 chaperonin protein have been linked to various neurological disorders, and recent findings highlight a group of patients with new heterozygous variants related to a unique hypomyelinating disorder.
- Clinical evaluations and genetic assays in a study of three patients showed early symptoms of nystagmus and hypotonia that progressed to spasticity, confirming that defective chaperonin assembly likely contributes to these disorders.
Objective: This study aims to clinically and genetically assess 30 unrelated consanguineous Pakistani families from various ethnic backgrounds, all exhibiting features of neurodevelopmental disorders (NDDs).
Methods: We conducted clinical, genetic, biochemical, and molecular analyses on 30 consanguineous families with NDDs enrolled from various regions of Pakistan. The likely molecular causes of primary microcephaly and NDDs were identified.
Article Synopsis
- - The p21-activated kinase (PAK) family regulates important cellular processes, including cell adhesion, movement, growth, and programmed cell death, with PAK2 specifically playing a role in apoptosis and angiogenesis.
- - A new missense variant, p.(Thr406Met), was discovered in a newborn with symptoms of Knobloch syndrome, alongside another variant, p.(Asp425Asn), both leading to significantly reduced PAK2 protein activity.
- - These findings suggest that deficiencies in PAK2 are linked to a second form of Knobloch syndrome, known as KNO2, supporting previous research on related PAK2 variants.