GATAD2B-associated neurodevelopmental disorder

GATAD2B-associated neurodevelopmental disorder is a rare genetic neurodevelopmental disorder which is characterized by severe intellectual disabilities, speech delays, hypotonia and facial dysmorphia.[1]

GATAD2B-associated neurodevelopmental disorder
Other namesGAND
SpecialtyMedical genetics
Usual onsetBirth
DurationLife-long
CausesMutation in the GATAD2B gene.
Preventionnone
PrognosisMedium, nearing good
Frequencyvery rare, only 78 cases have been described in medical literature
Deaths-

Signs and symptoms

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The following is a list of all the symptoms:[2]

Additional symptoms include polyhydramnios and epilepsy.[3]

Causes

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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

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78 cases have been described in medical literature.[6]

References

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  1. ^ Sensory 5. "GATAD2B-associated neurodevelopmental disorder | Rare Diseases". RareGuru. Retrieved 2022-06-04.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ "GATAD2B-associated neurodevelopmental disorder". NORD (National Organization for Rare Disorders). Retrieved 2022-06-04.
  3. ^ 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.
  4. ^ "Helping Hands for GAND". Helping Hands for GAND. Retrieved 2022-06-04.
  5. ^ "GATAD2B-associated neurodevelopmental disorder - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-04.
  6. ^ 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

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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