Targeted gene under study:
ETF1
Abstract
Dear colleagues and friends,
We have identified de novo heterozygous variants in the ETF1 gene in two children with developmental delay, growth retardation, microcephaly and some morphological features.
We would like to gather a series of children and adults with variants in ETF1 to try to determine their pathogenicity and describe a possible new developmental disease related to heterozygous loss of function of this gene.
This work is being carried out in collaboration with Dr. Matthew Deardorff from the USA, who initiated the study a few years ago.
Coordinating clinician
Cyril Mignot – cyril.mignot@aphp.fr
Institution
APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, 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