Jennefer N Kohler, Nicole R Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Berrak Ugur, Madelyn M Jackstadt, Leah P Shriver, Gary J Patti, Bo Zhang, Wenjia Feng, Anthony R McAdow, Pagé Goddard, Rachel A Ungar, Tanner Jensen, Kevin S Smith, Laure Fresard, Raquel Alvarez, Devon Bonner, Chloe M Reuter, Colleen McCormack, Elijah Kravets, Shruti Marwaha, James M Holt, Elizabeth Worthey, Euan A Ashley, Stephen B Montgomery, Paul Fisher, John Postlethwait, Pietro De Camilli, Lila Solnica-Krezel, Jonathan A Bernstein, Matthew T Wheeler
PURPOSE: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in four siblings. METHODS: We identified five individuals from three unrelated families with biallelic variants in FAM177A1. The physiological function of FAM177A1 was studied in a zebrafish model organism and human cell lines with loss-of-function variants similar to the affected cohort...
May 16, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics