Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

European Journal of Medical Genetics
Gabriella VeraAnne-Marie Guerrot

Abstract

De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its first description in 2013, nine patients have been reported in case reports and a series of 50 patients was recently published, which is consistent with the relative frequency of GATAD2B pathogenic variants in public databases. We report the detailed phenotype of 19 patients from various ethnic backgrounds with confirmed pathogenic GATAD2B variants including intragenic deletions. All individuals presented developmental delay with a median age of 2.5 years for independent walking and of 3 years for first spoken words. GATAD2B variant carriers showed very little subsequent speech progress, two patients over 30 years of age remaining non-verbal. ID was mostly moderate to severe, with one profound and one mild case, which shows a wider spectrum of disease severity than previously reported. We confirm macrocephaly as a major feature in GAND (53%). Most common dysmorphic features included broad forehead, deeply set eyes, hypertelorism, wide nasal base, and pointed chin. Conversely, prenatal...Continue Reading

References

Jan 18, 2006·Nucleic Acids Research·Marc BrackertzRainer Renkawitz
Jun 15, 2006·European Journal of Human Genetics : EJHG·Pascale Saugier-VeberThierry Frébourg
Apr 7, 2009·American Journal of Human Genetics·Helen V FirthNigel P Carter
Nov 16, 2010·Nature Genetics·Lisenka E L M VissersJoris A Veltman
Oct 5, 2012·The New England Journal of Medicine·Joep de LigtLisenka E L M Vissers
Aug 16, 2014·Immunological Reviews·Carissa Dege, James Hagman
Oct 31, 2014·PLoS Genetics·Fadi F HamdanJacques L Michaud
Mar 23, 2015·Cellular and Molecular Life Sciences : CMLS·Morgan P TorchyBruno P Klaholz
May 10, 2016·Annals of Neurology·Adeline VanderverRyan J Taft
Feb 18, 2017·American Journal of Medical Genetics. Part a·Thipwimol Tim-AroonDuangrurdee Wattanasirichaigoon
May 13, 2017·American Journal of Medical Genetics. Part a·Karlijn VermeulenTjitske Kleefstra
Nov 23, 2017·Nucleic Acids Research·Melissa J LandrumDonna R Maglott
Oct 23, 2018·American Journal of Medical Genetics. Part a·Rachel RabinJohn Pappas
Jun 18, 2019·Clinical Dysmorphology·Parneet KaurAnju Shukla
Nov 19, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Tyler Mark PiersonJoel P Mackay
May 14, 2020·Human Mutation·Maria C AspromonteEmanuela Leonardi

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Citations

Feb 12, 2021·European Journal of Medical Genetics·Juliette CoursimaultAnne-Claire Brehin
May 6, 2021·International Journal of Molecular Sciences·Sarah LarriganPierre Mattar

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