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Splice mutations and digital anomalies extend the genotypic and phenotypic spectrum of Kim-Gusella Syndrome in PHF21A patients

Date:
Thursday, Nov 2, 2023 3:00pm – 5:00pm
Conference:
ASHG 2023
Authors:
Afif Ben-Mahmoud, Ahmad Abou Tayoun, Aia Elise Jonch, Boris Keren, Diego Lopergolo, Dmitriy Niyazov, Emilia K. Bijlsma, Fung Charlotte, Hyung-Goo Kim, Isabelle Rouvet, Jennifer Jacober, Joe Farris, Kristina Sorensen, Lilian L Cohen, Maria Irene Scarano, Marielle Alders, Meghan Towne, Owens Josh, Saskia M. Maas, Seong-In Hyun, Solveig Heide, Tova Hershkovitz, Vanda McNiven, Vijay Gupta

Presenting Author: Afif Ben-Mahmoud (Hamad Bin Khalifa Univ, Doha, Qatar)

Take home points: 

  1. Exome sequencing has several unique benefits over traditional next generation sequencing due to its ability to detect alterations in uncharacterized and newly characterized genes.   
  2. This study described an expanded cohort of patients with PHF21A to include digital anomalies and shows the power of exome to immediately adapt to new evidence by reporting relevant alterations in newly characterized genes.
  3. Ambry participates in multi-institutional scientific collaborations to connect clinicians and researchers from around the world to help with both the characterization of gene-disease relationships and the further delineation of phenotypic spectrums.
Abstract Poster