What Is GATAD2B-Associated Neurodevelopmental Disorder?
Source: Genetic and Rare Diseases (GARD) Information Center
You can contact us here
GATAD2B-Associated Neurodevelopmental Disorder
GAND; Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
GATAD2B-associated neurodevelopmental disorder (GAND) affects the way the brain develops. It is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development. Explore symptoms, inheritance, genetics of this condition.
Month 10 - The areas of a baby's brain that control motor skills (movement) mature in a predictable sequence.
Image by TheVisualMD
Neural development
Image by TheVisualMD
Source: Genetic and Rare Diseases (GARD) Information Center
Genomic variant
Image by National Human Genome Research Institute
Source: Genetic and Rare Diseases (GARD) Information Center
Autosomal Dominant and Baby
Image by TheVisualMD / Domaina
GATAD2B-associated neurodevelopmental disorder (GAND) can be inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic alteration (de novo) and there is no history of this condition in the family. This is often the case for GAND.
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.
In rare cases, it may be inherited from a parent who has a genetic variant in the GATAD2B gene in some of his or her cells but not all of them (mosaic). A parent who is mosaic for a genetic variant in the GATAD2B gene usually does not have any symptoms of GAND.
Source: Genetic and Rare Diseases (GARD) Information Center
Neurodegeneration - Para-sagittal MRI of the head in a patient with benign familial macrocephaly.
Image by Dwayne Reed at en.wikipedia
Source: Genetic and Rare Diseases (GARD) Information Center
Genetic testing
Image by genome.gov
Source: Genetic and Rare Diseases (GARD) Information Center
Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.
Image by 4144132
Source: Genetic and Rare Diseases (GARD) Information Center
Unknown (película)
Image by Diseñadores publicitarios/Wikimedia
Source: Genetic and Rare Diseases (GARD) Information Center
Get free access to in-depth articles and track your personal health.
Send this HealthJournal to your friends or across your social medias.