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FAM177A1 Poster Presented at Medical Genetics Conference

The following poster was presented at the American College of Medical Genetics Conference (ACMG) in April, 2020.


Highlights include:

  • 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

 



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