. 2020 May;22(5):878-888.

doi: 10.1038/s41436-019-0747-z. Epub 2020 Jan 17.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Christine Shieh¹, Natasha Jones², Brigitte Vanle^{3

4}, Margaret Au⁵, Alden Y Huang⁶, Ana P G Silva², Hane Lee⁷, Emilie D Douine⁸, Maria G Otero⁹, Andrew Choi⁹, Katheryn Grand¹⁰, Ingrid P Taff¹¹, Mauricio R Delgado¹², M J Hajianpour¹³, Andrea Seeley¹⁴, Luis Rohena^{15

16}, Hilary Vernon¹⁷, Karen W Gripp¹⁸, Samantha A Vergano¹⁹, Sonal Mahida²⁰, Sakkubai Naidu^{21

22}, Ana Berta Sousa²³, Karen E Wain²⁴, Thomas D Challman²⁴, Geoffrey Beek²⁵, Donald Basel²⁶, Judith Ranells²⁷, Rosemarie Smith²⁸, Roman Yusupov²⁹, Mary-Louise Freckmann³⁰, Lisa Ohden³¹, Laura Davis-Keppen³², David Chitayat^{33

34}, James J Dowling³⁵, Richard Finkel³⁶, Andrew Dauber³⁷, Rebecca Spillmann³⁸, Loren D M Pena^{39

40}; Undiagnosed Diseases Network; Kay Metcalfe⁴¹, Miranda Splitt⁴², Katherine Lachlan^{43

44}, Shane A McKee⁴⁵, Jane Hurst⁴⁶, David R Fitzpatrick⁴⁷, Jenny E V Morton^{48

49

50}, Helen Cox^{48

49

50}, Sunita Venkateswaran⁵¹, Juan I Young⁵², Eric D Marsh⁵³, Stanley F Nelson⁸, Julian A Martinez⁵⁴, John M Graham Jr⁵⁵, Usha Kini⁵⁶, Joel P Mackay², Tyler Mark Pierson^{57

58

59}

Affiliations

¹ David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
² School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
³ Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁴ Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.
⁵ Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁶ Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
⁷ Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
⁸ Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
⁹ Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
¹⁰ Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
¹¹ Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.
¹² Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
¹³ Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.
¹⁴ Geisinger Medical Center, Danville, PA, USA.
¹⁵ Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.
¹⁶ Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.
¹⁷ McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.
¹⁸ Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.
¹⁹ Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
²⁰ Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
²¹ Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.
²² Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.
²³ Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.
²⁴ Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
²⁵ Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.
²⁶ Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.
²⁷ Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.
²⁸ Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.
²⁹ Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.
³⁰ Royal North Shore Hospital, St Leonards, NSW, Australia.
³¹ Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.
³² Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.
³³ The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
³⁴ Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
³⁵ Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
³⁶ Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
³⁷ Division of Endocrinology, Children's National Health System, Washington, DC, USA.
³⁸ Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
³⁹ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
⁴⁰ Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
⁴¹ Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.
⁴² Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.
⁴³ Faculty of Medicine, University of Southampton, Southampton, UK.
⁴⁴ Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.
⁴⁵ Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
⁴⁶ Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.
⁴⁷ Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
⁴⁸ West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.
⁴⁹ Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
⁵⁰ Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
⁵¹ Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
⁵² John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
⁵³ Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁵⁴ Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
⁵⁵ Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁵⁶ Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.
⁵⁷ Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.
⁵⁸ Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.
⁵⁹ Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.

PMID: 31949314
PMCID: PMC7920571
DOI: 10.1038/s41436-019-0747-z

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Christine Shieh et al. Genet Med. 2020 May.

. 2020 May;22(5):878-888.

doi: 10.1038/s41436-019-0747-z. Epub 2020 Jan 17.

Authors

Affiliations

¹ David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
² School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
³ Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁴ Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.
⁵ Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁶ Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
⁷ Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
⁸ Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
⁹ Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
¹⁰ Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
¹¹ Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.
¹² Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
¹³ Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.
¹⁴ Geisinger Medical Center, Danville, PA, USA.
¹⁵ Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.
¹⁶ Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.
¹⁷ McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.
¹⁸ Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.
¹⁹ Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
²⁰ Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
²¹ Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.
²² Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.
²³ Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.
²⁴ Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
²⁵ Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.
²⁶ Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.
²⁷ Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.
²⁸ Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.
²⁹ Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.
³⁰ Royal North Shore Hospital, St Leonards, NSW, Australia.
³¹ Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.
³² Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.
³³ The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
³⁴ Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
³⁵ Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
³⁶ Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
³⁷ Division of Endocrinology, Children's National Health System, Washington, DC, USA.
³⁸ Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
³⁹ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
⁴⁰ Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
⁴¹ Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.
⁴² Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.
⁴³ Faculty of Medicine, University of Southampton, Southampton, UK.
⁴⁴ Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.
⁴⁵ Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
⁴⁶ Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.
⁴⁷ Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
⁴⁸ West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.
⁴⁹ Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
⁵⁰ Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
⁵¹ Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
⁵² John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
⁵³ Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁵⁴ Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
⁵⁵ Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁵⁶ Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.
⁵⁷ Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.
⁵⁸ Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.
⁵⁹ Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.

PMID: 31949314
PMCID: PMC7920571
DOI: 10.1038/s41436-019-0747-z

Erratum in

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM; Undiagnosed Diseases Network; Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM. Shieh C, et al. Genet Med. 2020 Apr;22(4):822. doi: 10.1038/s41436-020-0760-2. Genet Med. 2020. PMID: 32047287 Free PMC article.

Abstract

Purpose: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND).

Methods: Fifty GAND subjects were evaluated to determine consistent genotypic/phenotypic features. Immunoprecipitation assays utilizing in vitro transcription-translation products were used to evaluate GATAD2B missense variants' ability to interact with binding partners within the nucleosome remodeling and deacetylase (NuRD) complex.

Results: Subjects had clinical findings that included macrocephaly, hypotonia, intellectual disability, neonatal feeding issues, polyhydramnios, apraxia of speech, epilepsy, and bicuspid aortic valves. Forty-one novelGATAD2B variants were identified with multiple variant types (nonsense, truncating frameshift, splice-site variants, deletions, and missense). Seven subjects were identified with missense variants that localized within two conserved region domains (CR1 or CR2) of the GATAD2B protein. Immunoprecipitation assays revealed several of these missense variants disrupted GATAD2B interactions with its NuRD complex binding partners.

Conclusions: A consistent GAND phenotype was caused by a range of genetic variants in GATAD2B that include loss-of-function and missense subtypes. Missense variants were present in conserved region domains that disrupted assembly of NuRD complex proteins. GAND's clinical phenotype had substantial clinical overlap with other disorders associated with the NuRD complex that involve CHD3 and CHD4, with clinical features of hypotonia, intellectual disability, cardiac defects, childhood apraxia of speech, and macrocephaly.

Keywords: GATAD2B; NuRD complex; apraxia of speech; chromatin remodeling; macrocephaly.

PubMed Disclaimer

Conflict of interest statement

Disclosures: The authors declare no conflict of interest.

Figures

**Fig. 1.. Genomic and Protein Schematic Diagram with GAND variants.**
All reported pathogenic *GATAD2B* variants from our study are represented as deletions, splice-site or protein changes below the protein diagram. Genomic deletions are represented as bars below the figure. Previously reported variants and deletions are represented with grey letters and bars above the diagram. * = monozygotic twins; # = somatic mosaic family

**Fig. 2.. Photographs of affected individuals with associated with variant types. a-e:**
Nonsense or truncating frameshift variants: a. GAND19 b. GAND18 c. GAND33 & GAND34 d. GAND53 e. GAND20 **f-k:** Missense variants: f. GAND28 g. GAND15 h. GAND52 i. GAND32 j. GAND55 k. GAND49 **l-q:** Splice-site variants: l. GAND17 m. GAND27 n. GAND42 o. GAND21 p. GAND6 **q-v:** Nonsense or truncating frameshift variants: q. GAND40 r. GAND12 s. GAND3 t. GAND13 u. GAND8 v. GAND36 w. GAND2 x. composite of 19 photographs of GAND subjects and y. 19 healthy controls (FDNA Inc. USA).

**Fig. 3.. Neuroimaging of GAND8 and GAND53.**
**a-b:** GAND8 a. Axial FLAIR image showed enlarged subarachnoid spaces and nonobstructive ventriculomegaly of the lateral ventricles (cavum vergae was also present) b. Sagittal T1 showed macrocephaly, enlarged extra-axial fluid, and a thin corpus callosum **c-d:** GAND53 c. Sagittal T1 with normal corpus callosum and structures (prominence of the extraaxial CSF spaces previously seen on earlier imaging had resolved) d. Axial FLAIR image showing multiple punctate and patchy foci of nonspecific signal hyperintensity scattered in the bilateral cerebral white matter, particularly involving the parietal lobes.

**Fig. 4.. GAND-associated missense variants L180P, R414Q, C420S and C420R disrupt binding to NuRD components CHD3/4/5 or MBD2/3.**
a) FLAG-tagged MBD2 or MBD3 were co-expressed with HA-GATAD2B (wild type (WT) or L180P) by *in vitro* transcription-translation (IVT) in a rabbit reticulocyte lysate. b) The FLAG-tagged C1-C2 domains of CHD3, CHD4 or CHD5 was co-expressed with HA-GATAD2B (WT, R414Q, C420R, C420S, and G406R) in IVTs. In all experiments, FLAG-fusion proteins were immobilized on αFLAG affinity beads and used as baits to pull down the co-expressed HA-GATAD2B. As a negative control, wild-type (WT) HA-GATAD2B was added to beads to which no FLAG fusion protein had been immobilized. In each case, 10% of inputs and 50% of elutions were loaded on an SDS-PAGE and proteins were detected by Western blot, using αHA and/or αFLAG antibodies. # = degradation product of FLAG-MBD2.

See this image and copyright information in PMC

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

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