Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Autor: Inoue Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HC-FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., de Oliveira Stephan B; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HC-FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Castro MAA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HC-FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HC-FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Bertola DR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HC-FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Misawa K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; RIKEN Center for Advanced Intelligence Project, Tokyo, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp.
Jazyk: angličtina
Zdroj: Journal of human genetics [J Hum Genet] 2024 Apr; Vol. 69 (3-4), pp. 163-167. Date of Electronic Publication: 2024 Jan 17.
DOI: 10.1038/s10038-024-01219-8
Abstrakt: The gene for ATP binding cassette subfamily A member 2 (ABCA2) is located at chromosome 9q34.3. Biallelic ABCA2 variants lead to intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA). In this study, we identified novel compound heterozygous ABCA2 variants (NM_001606.5:c.[5300-17C>A];[6379C>T]) by whole exome sequencing in a 28-year-old Korean female patient with intellectual disability. These variants included intronic and nonsense variants of paternal and maternal origin, respectively, and are absent from gnomAD. SpliceAI predicted that the intron variant creates a cryptic acceptor site. Reverse transcription-PCR using RNA extracted from a lymphoblastoid cell line of the patient confirmed two aberrant transcripts. Her clinical features are compatible with those of IDPOGSA.
(© 2024. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)
Databáze: MEDLINE
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