A Comprehensive Overview of NF1 Mutations in Iranian Patients

Medicine, Medical Laboratory Science, Neurology, Oncology, Life Sciences, Cell Biology, Biochemistry, Genetics,
NF1   mutation   Iranian   whole-exome sequencing   genetic counseling  

Comprehensive Overview of Mutations in Neurofibromatosis Type 1 Among Iranian Patients Neurofibromatosis type 1 (NF1) is a hereditary disease caused by mutations in the NF1 gene, characterized by almost complete penetrance and high phenotypic variability. This study aims to identify NF1 mutations in Iranian patients using whole-genome exome sequenc...

Loss-of-function mutation of the ADNP gene causes Helsmoortel-van der Aa syndrome

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
ADNP   Helsmoortel-van der Aa syndrome   mutation   whole-genome sequencing   episignature  

Based on the research of Helsmoortel-Van der Aa syndrome (HVDAS) caused by ADNP gene mutations, D’Incal et al. published an in-depth research paper in the European Journal of Human Genetics. Through a case study of a five-year-old girl, the team discovered a three-base pair deletion at the splice acceptor site of the first coding exon of ADNP. This...