GATAD2B-associated neurodevelopmental disorder is a rare genetic

neurodevelopmental disorder Neurodevelopmental disorders are a group of mental conditions negatively affecting the development of the nervous system, which includes the brain and spinal cord. According to the American Psychiatric Association Diagnostic and Statistical Manu ...

which is characterized by severe

intellectual disabilities Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...

, speech delays,

hypotonia Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different dis ...

and facial dysmorphia.

Signs and symptoms

The following is a list of all the symptoms: * Moderate to severe

* Speech delay *

Macrocephaly Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a Heredity, familial genetic characteristic. People diagnosed with macrocephaly will receive further medical ...

* Childhood

low muscle tone Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different dis ...

* Feeding problems * Variable cardiac anomalies * Facial dysmorphisms Additional symptoms include

polyhydramnios Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clini ...

and

epilepsy Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activit ...

Causes

This condition is caused by either (usually sporadic or de novo) alterations or a deletion of the

GATAD2B Transcriptional repressor p66-beta is a protein that in humans is encoded by the ''GATAD2B'' gene. Interactions GATAD2B has been shown to interact with Methyl-CpG-binding domain protein 2, MBD3, RBBP7 and RBBP4 Histone-binding protein RBBP4 ...

gene, located in

chromosome 1 Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which a ...

. In familial cases, inheritance is usually

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

Epidemiology

78 cases have been described in medical literature.

References

{{reflist

Signs and symptoms

Causes

Epidemiology

References

Further reading