Abstract
BackgroundArboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems.Case presentationA baby presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion indentation, a prominent nasal bridge, a thin upper lip, low-set ears, an epicanthal fold, and cardiac malformations. Whole exome sequencing (WES) revealed a heterozygous nonsense mutation in exon 8 of the KAT6A gene (c.1312C>T, p.[Arg438*]) at 2 months of age. After a diagnosis of ARTHS, an expressive language delay was observed during serial assessments of developmental milestones.ConclusionsIn this study, we describe a case with a novel KAT6A variant first identified in Korea. This case broadens the scope of clinical features of ARTHS and emphasizes that WES is necessary for early diagnosis in patients with dysmorphic facial appearances, developmental delay, and other congenital abnormalities.
Highlights
Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of Lysine acetyltransferase 6A (KAT6A), is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems.Case presentation: A baby presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion indentation, a prominent nasal bridge, a thin upper lip, low-set ears, an epicanthal fold, and cardiac malformations
In this study, we describe a case with a novel KAT6A variant first identified in Korea
This case broadens the scope of clinical features of ARTHS and emphasizes that Whole exome sequencing (WES) is necessary for early diagnosis in patients with dysmorphic facial appearances, developmental delay, and other congenital abnormalities
Summary
We describe a case with a novel KAT6A variant first identified in Korea.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have