BRWD3

Last update 08 May 2025

Basic Info

Synonyms

bromodomain and WD repeat domain containing 3, Bromodomain and WD repeat-containing protein 3, BRWD3

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Introduction

Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

100 Clinical Results associated with BRWD3

100 Translational Medicine associated with BRWD3

0 Patents (Medical) associated with BRWD3

Literatures (Medical) associated with BRWD3

01 Oct 2024·European Journal of Human Genetics

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

Article

Author: Chaurasia, Ankur ; Jadhav, Nalesh ; Bhat Y, Ramesh ; Girisha, Katta Mohan ; Sankhyan, Naveen ; Pande, Shruti ; Narayanan, Dhanya Lakshmi ; Yatheesha, B L ; Kamath, Nutan ; Nampoothiri, Sheela ; Kumar, Jeevan ; Shukla, Anju ; Bajaj, Shruti ; Aroor, Shrikiran ; Mascarenhas, Selinda ; Nayak, Shalini S ; Lewis, Leslie E ; do Rosario, Michelle C ; Rao, Lakshmi Priya ; Neethukrishna, Kausthubham ; Bhavani, Gandham SriLakshmi ; Bielas, Stephanie ; Kaur, Namanpreet ; Patil, Siddaramappa J ; Nair, Karthik ; Siddiqui, Shahyan ; Sharma, Suvasini ; Bhat, Vivekananda ; Hunakunti, Bhagesh ; Majethia, Purvi ; Xavier, Sruthy

AbstractThe contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants. We also emphasize on the effectiveness of singleton exome sequencing as a valuable tool for diagnosing these disorders in resource limited settings. Overall, 46 distinct disorders were identified encompassing 46 genes with 51 single-nucleotide variants and/or indels and two copy-number variants. Pathogenic variants were identified in CREBBP, TSC2, KMT2D, MECP2, IDS, NIPBL, NSD1, RIT1, SOX10, BRWD3, FOXG1, BCL11A, KDM6B, KDM5C, SETD5, QRICH1, DCX, SMARCD1, ASXL1, ASXL3, AKT3, FBN2, TCF12, WASF1, BRAF, SMARCA4, SMARCA2, TUBG1, KMT2A, CTNNB1, DLG4, MEIS2, GATAD2B, FBXW7, ANKRD11, ARID1B, DYNC1H1, HIVEP2, NEXMIF, ZBTB18, SETD1B, DYRK1A, SRCAP, CASK, L1CAM, and KRAS. Twenty-four of these monogenic disorders have not been previously reported in the Indian population. Notably, 39 out of 53 (74%) disease-causing variants are novel. These variants were identified in the genes mainly encoding transcriptional and chromatin regulators, serine threonine kinases, lysosomal enzymes, molecular motors, synaptic proteins, neuronal migration machinery, adhesion molecules, structural proteins and signaling molecules.

01 Jul 2024·Human Genetics and Genomics Advances

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

Article

Author: Kerkhof, Jennifer ; Rossi Sebastiano, Matteo ; Petlichkovski, Aleksandar ; Palermo, Flavia ; Cardaropoli, Simona ; Rinninella, Antonina ; Rzasa, Jessica ; Pullano, Verdiana ; Pippucci, Tommaso ; Brusco, Alfredo ; Mandrile, Giorgia ; Giorgio, Elisa ; Ferrero, Enza ; Rooney, Kathleen ; Sukarova-Angelovska, Elena ; Metcalfe, Kay ; Jenkinson, Sarah ; Trajkova, Slavica ; Carli, Diana ; Carestiato, Silvia ; Marinoni, Roberta ; Dimartino, Paola ; Mussa, Alessandro ; McConkey, Haley ; Sadikovic, Bekim ; Banka, Siddharth ; Pavinato, Lisa ; Ferrero, Giovanni Battista ; Di Gregorio, Eleonora ; Campbell, Christopher M ; Giovenino, Chiara ; Pasini, Barbara

Analysis of genomic DNA methylation by generating epigenetic signature profiles (episignatures) is increasingly being implemented in genetic diagnosis. Here we report our experience using episignature analysis to resolve both uncomplicated and complex cases of neurodevelopmental disorders (NDDs). We analyzed 97 NDDs divided into (1) a validation cohort of 59 patients with likely pathogenic/pathogenic variants characterized by a known episignature and (2) a test cohort of 38 patients harboring variants of unknown significance or unidentified variants. The expected episignature was obtained in most cases with likely pathogenic/pathogenic variants (53/59 [90%]), a revealing exception being the overlapping profile of two SMARCB1 pathogenic variants with ARID1A/B:c.6200, confirmed by the overlapping clinical features. In the test cohort, five cases showed the expected episignature, including (1) novel pathogenic variants in ARID1B and BRWD3; (2) a deletion in ATRX causing MRXFH1 X-linked mental retardation; and (3) confirmed the clinical diagnosis of Cornelia de Lange (CdL) syndrome in mutation-negative CdL patients. Episignatures analysis of the in BAF complex components revealed novel functional protein interactions and common episignatures affecting homologous residues in highly conserved paralogous proteins (SMARCA2 M856V and SMARCA4 M866V). Finally, we also found sex-dependent episignatures in X-linked disorders. Implementation of episignature profiling is still in its early days, but with increasing utilization comes increasing awareness of the capacity of this methodology to help resolve the complex challenges of genetic diagnoses.

01 Jan 2024·Revista de Neurología

Síndrome de discapacidad intelectual ligada a X con macrocefalia por deleción del gen BRWD3

Article

Author: Arroyo-Carrera, I ; García-Navas Núñez, V ; Martín-Fernández, R ; Romero-Peguero, R ; Ramajo-Polo, A

INTRODUCTIONPathogenic variants in BRWD3 gene have been described as a rare cause of syndromic X-linked intellectual disability. Its phenotype shows neurodevelopmental delay with intellectual disability in all reported patients, facial dysmorphic features, macrocephaly, overgrowth and obesity. The great majority of cases yield point variants in the gene, only three large deletions including only the BRWD3 gene have been reported. The BRWD3 protein is an epigenetic reader that regulates chromatin remodeling. We report a boy with a compatible phenotype and a deletion including only this gene.CASE REPORTBoy, without family and perinatal pathological background, with neurodevelopmental delay: psychomotor delay, speech delay and intellectual disability, macrocephaly (p > 99) and obesity. Phenotype with facial dysmorphic features: wide forehead, deep set eyes, bulbous nose, prominent ears and pointed chin. The array-CGH analysis showed a 586 kb deletion at Xq21.1 including only one gene with associated disorder, BRWD3. Afterwards, the deletion was also identified in his asymptomatic mother and sister.CONCLUSIONSOur patient confirms that the haploinsufficiency due to BRWD3 deletion is a causal genetic mechanism of the BRWD3-related syndromic X-linked intellectual disability. It is important to recognize the phenotype for the diagnosis and follow up of the patients, and also to carry out the family genetic analysis in order to identify and give genetic counselling to the women who also have the genetic defect, because the majority of them are asymptomatic, as the mother and sister of our patient.

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