Neurodevelopmental disorder with macrocephaly

Definition:

Neurodevelopmental disorder with macrocephaly is a heterogeneous group of diseases. It has been reported that pathogenic variants in CHD3, CHD4, and GATAD2B are associated with this disease. They are components of the nucleosome remodeling and deacetylase (NuRD) complex. NuRD complex is a major regulator of gene expression involved in pluripotency, lineage commitment, and corticogenesis. In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac defects. GATAD2B-associated neurodevelopmental disorder (GAND) has phenotypic overlap with both of these disorders.

References:

[1]. Christine Shieh, et al. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 May;22(5):878-888. [Content Brief]

[2]. Karin Weiss, et al. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Am J Hum Genet. 2016 Oct 6;99(4):934-941. [Content Brief]

[3]. Lot Snijders Blok, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 Nov 5;9(1):4619. [Content Brief]

[4]. Tyler Mark Pierson, et al. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):548-556. [Content Brief]

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