Article
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
European journal of human genetics : EJHG - 1 Mar 2024
Albuainain Fatimah, Shi Yuwei, Lor-Zade Sarah, Hüffmeier Ulrike, Pauly Melissa, Reis André, Faivre Laurence, Maraval Julien, Bruel Ange-Line, Them Frédéric Tran Mau, Haack Tobias B, Grasshoff Ute, Horber Veronka, Schot Rachel, van Slegtenhorst Marjon, Wilke Martina, Barakat Tahsin Stefan
Abstract excerpt
Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been found to be caused by de novo loss-of-function variants in TCEAL1. So...
Topics
- Adult
- Female
- Humans
- Neurodevelopmental Disorders
- Intellectual Disability
- Autistic Disorder
- Base Sequence
- Phenotype
- DNA-Binding Proteins