Medical condition
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]
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" . RareGuru . Retrieved 2022-06-04 . {{cite web }}: CS1 maint: numeric names: authors list (link )^ "GATAD2B-associated neurodevelopmental disorder" . NORD (National Organization for Rare Disorders) . Retrieved 2022-06-04 .^ 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. doi :10.1038/s41436-019-0747-z . ISSN 1098-3600 . PMC 7920571 PMID 31949314 . ^ "Helping Hands for GAND" . Helping Hands for GAND . Retrieved 2022-06-04 .^ "GATAD2B-associated neurodevelopmental disorder - About the Disease - Genetic and Rare Diseases Information Center" . rarediseases.info.nih.gov . Retrieved 2022-06-04 .^ 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)" (PDF) . European Journal of Medical Genetics . 63 (10): 104004. doi :10.1016/j.ejmg.2020.104004 ISSN 1769-7212 . PMID 32688057 . S2CID 220671164 .
Further reading
Unique - Rare Chromosome Disorder Support Group. (2022). GATAD2B-associated neurodevelopmental disorder (GAND)/GATAD2B syndrome. https://rarechromo.org/media/information/Chromosome%20%201/GATAD2B-associated%20neurodevelopmental%20disorder%20(GAND)%20GATAD2B%20syndromeQFN.pdf
