title: ELP2 is a novel gene implicated in neurodevelopmental disabilities.
abstract: Elongator is a multi-subunit protein complex essential to transcription elongation, histone acetylation, and tRNA modification. The complex consists of six highly conserved protein subunits, called Elongator Proteins (ELP) 1-6. Apart from an association with intellectual disability (ID), there is limited clinical information about patients with ELP2 variants. Here we report on two brothers with severe ID, spastic diplegia, and self-injury whose presentation eluded a diagnosis for over 20 years. In both brothers, whole exome sequencing revealed a likely pathogenic, compound heterozygous missense variant in ELP2. We describe the phenotype and natural history of the ELP2-related disorder in these brothers.
authors.affiliation: Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.
authors.forename: Julie S
authors.initials: JS
authors.lastname: Cohen
authors.affiliation: Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.|Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland.
authors.forename: Siddharth
authors.initials: S
authors.lastname: Srivastava
authors.affiliation: Ambry Genetics, 15 Argonaut, Aliso Viejo, California.
authors.forename: Kelly D
authors.initials: KD
authors.lastname: Farwell
authors.affiliation: Ambry Genetics, 15 Argonaut, Aliso Viejo, California.
authors.forename: Hsiao-Mei
authors.initials: HM
authors.lastname: Lu
authors.affiliation: Ambry Genetics, 15 Argonaut, Aliso Viejo, California.
authors.forename: Wenqi
authors.initials: W
authors.lastname: Zeng
authors.affiliation: Ambry Genetics, 15 Argonaut, Aliso Viejo, California.
authors.forename: Hong
authors.initials: H
authors.lastname: Lu
authors.affiliation: Ambry Genetics, 15 Argonaut, Aliso Viejo, California.|Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, California.
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Chao
authors.affiliation: Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.|Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland.
authors.forename: Ali
authors.initials: A
authors.lastname: Fatemi
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002547:Cerebral Palsy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D059472:Exome; D015870:Gene Expression; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D016728:Self-Injurious Behavior / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D035781:Siblings
chemical_list: C413649:ELP2 protein, human; D047908:Intracellular Signaling Peptides and Proteins
keywords: ELP2; Elongator complex; intellectual disability; self-injury; spastic diplegia