A case with coarse facial features, mandibular prognathia, and macrotia, in combination with neurobehavioral abnormalities and a missense variant in ABCA2

Õunap, K. (2024). A case with coarse facial features, mandibular prognathia, and macrotia, in combination with neurobehavioral abnormalities and a missense variant in ABCA2 (Version 1) [DataSet]. GestaltMatcher Database.

We report a 10-year-old male presenting with coarse facial features, mandibular prognathia, and macrotia, in combination with neurobehavioral abnormalities, including aggressive behavior, autistic traits, and hyperactivity. Exome sequencing identified a heterozygous missense variant in ABCA2 (NM_001606.4):c.2776C>T, p.(Arg926Trp). The ACMG guideline classifies this variant as VUS (2P-1B). Functional studies are at work. ABCA2 encodes a member of the ATP-binding cassette transporter family implicated in neuronal lipid metabolism and brain development. Pathogenic variants in ABCA2 have been reported in association with neurodevelopmental phenotypes; the clinical presentation of our patient expands the phenotypic spectrum potentially linked to ABCA2 dysfunction.