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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




 
 
 

1件のコメント


linmorley67
linmorley67
2021年5月29日

Jill.

This is very enlightening. Will you be speaking to Doctors or lay people? There was a lot I didn't understand but still learned a lot. Good luck on the 5th. I will try to listen in!

いいね!

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The information provided on this website is not intended to diagnose or treat a disease or disorder. Please direct any medical-related questions to your physician. The FAM177A1 Research Fund is not responsible for any errors or omissions on this website.

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