Gene/phenotype/disorder under study
KAT6A, Arboleda-Tham Syndrome (OMIM #616268)
Abstract
We aim to describe the prenatal phenotype of Arboleda-Tham syndrome, which is associated with a heterozygous pathogenic variant in the KAT6A gene.
One of the main objectives is to facilitate the interpretation of KAT6A variants identified prenatally, particularly through prenatal exome sequencing. While the postnatal phenotype of this syndrome is relatively well described, prenatal data remain scarce, which can make it difficult to classify variants when fetal ultrasound anomalies are present.
Therefore, we are seeking to collect the following cases:
• Fetal cases with a molecular diagnosis (with or without autopsy)
• Postnatally diagnosed patients for whom prenatal data are available
Thank you in advance for your collaboration.
Coordinating clinicians
Vivien CUVELIER, resident – vivien.cuvelier@chu-lille.fr
Cindy Colson, MD – cindy.colson@chu-lille.fr
Institution
Lille University Hospital, FRANCE
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No