GATAD2B-associated neurodevelopmental disorder explained
| GATAD2B-associated neurodevelopmental disorder |
| Synonyms: | GAND |
| Onset: | Birth |
| Duration: | Life-long |
| Causes: | Mutation in the GATAD2B gene. |
| Risk: | --> |
| Prevention: | none |
| Management: | --> |
| Prognosis: | Medium, nearing good |
| Frequency: | very rare, only 78 cases have been described in medical literature |
| Deaths: | - |
GATAD2B-associated neurodevelopmental disorder is a rare genetic neurodevelopmental disorder which is characterized by severe intellectual disabilities, speech delays, hypotonia and facial dysmorphia.[1]
Signs and symptoms
The following is a list of all the symptoms:[2]
Additional symptoms include polyhydramnios and epilepsy.[3]
Causes
This condition is caused by either (usually sporadic or de novo) alterations or a deletion of the GATAD2B gene, located in chromosome 1. In familial cases, inheritance is usually autosomal dominant.[4] [5]
Epidemiology
78 cases have been described in medical literature.[6]
Notes and References
- Web site: Sensory 5 . GATAD2B-associated neurodevelopmental disorder Rare Diseases . 2022-06-04 . RareGuru . en.
- Web site: GATAD2B-associated neurodevelopmental disorder . 2022-06-04 . NORD (National Organization for Rare Disorders) . en-US.
- Shieh . Christine . Jones . Natasha . Vanle . Brigitte . Au . Margaret . Huang . Alden Y. . Silva . Ana P.G. . Lee . Hane . Douine . Emilie D. . Otero . Maria G. . Choi . Andrew . Grand . Katheryn . May 2020 . GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder . Genetics in Medicine . 22 . 5 . 878–888 . 10.1038/s41436-019-0747-z . 1098-3600 . 7920571 . 31949314.
- Web site: Helping Hands for GAND . 2022-06-04 . Helping Hands for GAND . en.
- Web site: GATAD2B-associated neurodevelopmental disorder - About the Disease - Genetic and Rare Diseases Information Center . 2022-06-04 . rarediseases.info.nih.gov . en.
- Vera . Gabriella . Sorlin . Arthur . Delplancq . Geoffroy . Lecoquierre . François . Brasseur-Daudruy . Marie . Petit . Florence . Smol . Thomas . Ziegler . Alban . Bonneau . Dominique . Colin . Estelle . Mercier . Sandra . 2020-10-01 . Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) . European Journal of Medical Genetics . en . 63 . 10 . 104004 . 10.1016/j.ejmg.2020.104004 . 32688057 . 220671164 . 1769-7212. free .
