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

Journal of human genetics - 1 Apr 2024

Inoue Yuta, Tsuchida Naomi, Kim Chong Ae, de Oliveira Stephan Bruno, Castro Matheus Augusto Araujo, Honjo Rachel Sayuri, Bertola Debora Romeo, Uchiyama Yuri, Hamanaka Kohei, Fujita Atsushi, Koshimizu Eriko, Misawa Kazuharu, Miyatake Satoko, Mizuguchi Takeshi, Matsumoto Naomichi

Abstract excerpt

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...

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PMID: 38228874
DOI: 10.1038/s10038-024-01219-8

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