The following poster was presented at the American College of Medical Genetics Conference (ACMG) in April, 2020.
Summary/case report of Charlotte and Cooper, "Cases 1 & 2" including previous genetic testing
DNA and RNA Sequencing results
Phenotype (observable characteristics) of the 8 individuals known to have loss of function (LOF) of FAM177A1
Loss of function (LOF) of FAM177A1 characterized by macrocephaly, autism, seizures, gross motor delays
Emphasizes the importance of case matching and re-analysis of genetic evaluation when identifying this variant (it took 3 different analyses to find this with Charlotte and Cooper!).
Zebrafish studies to understand the function of FAM177A1 are ongoing at the MOSC (Model Organism Screening Center) in St. Louis, MO