Medicine:GATAD2B-associated neurodevelopmental disorder
From HandWiki
| GATAD2B-associated neurodevelopmental disorder | |
|---|---|
| Other names | GAND |
| Specialty | Medical genetics |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Mutation in the GATAD2B gene. |
| Prevention | none |
| 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]
- Moderate to severe intellectual disabilities
- Speech delay
- Macrocephaly
- Childhood low muscle tone
- Feeding problems
- Variable cardiac anomalies
- Facial dysmorphisms
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]
References
- ↑ Sensory 5. "GATAD2B-associated neurodevelopmental disorder | Rare Diseases" (in en). https://rareguru.com/library/disease/2465/gatad2b-associated-neurodevelopmental-disorder.
- ↑ "GATAD2B-associated neurodevelopmental disorder" (in en-US). https://rarediseases.org/gard-rare-disease/gatad2b-associated-neurodevelopmental-disorder/.
- ↑ Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P.G.; Lee, Hane; Douine, Emilie D. et al. (May 2020). "GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder". Genetics in Medicine 22 (5): 878–888. doi:10.1038/s41436-019-0747-z. ISSN 1098-3600. PMID 31949314.
- ↑ "Helping Hands for GAND" (in en). https://www.gatad2b.org/.
- ↑ "GATAD2B-associated neurodevelopmental disorder - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/12815/gatad2b-associated-neurodevelopmental-disorder.
- ↑ Vera, Gabriella; Sorlin, Arthur; Delplancq, Geoffroy; Lecoquierre, François; Brasseur-Daudruy, Marie; Petit, Florence; Smol, Thomas; Ziegler, Alban et al. (2020-10-01). "Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)" (in en). European Journal of Medical Genetics 63 (10): 104004. doi:10.1016/j.ejmg.2020.104004. ISSN 1769-7212. PMID 32688057. https://hal.science/hal-02904491/file/S1769721220305073.pdf.
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