A5082533930- Neonatal Respiratory Health Research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Pulmonary Hypertension Research and Treatments
- Epigenetics and DNA Methylation
- Medical Imaging and Pathology Studies
Columbia University
2021
Columbia University Irving Medical Center
2021
The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new cause adult-onset PAH. However, contribution risk alleles to child-onset PAH remains largely unexplored.We report three families novel, autosomal recessive form childhood-onset due biallelic variants. Disease onset ranged from birth 2.5 years and was...
Abstract Exome and genome sequencing were used to identify the genetic etiology of a severe neurodevelopmental disorder in two unrelated Ashkenazi Jewish families with three affected individuals. The clinical findings included prenatal presentation microcephaly, polyhydramnios clenched hands while postnatal developmental delay, dysmorphism, neurologic deficits, death infancy. A shared rare homozygous, missense variant (c.274A > G; p.Ser92Gly, NM_024516.4) was identified PAGR1, gene...