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A Novel Heterozygous ACAN Variant in a Short Patient Born Small for Gestational Age with Recurrent Patellar
Su Ji Kim1, Jong Seo Yoon1, Il Tae Hwang1
1Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Department of Pediatrics, Seoul, Korea
Insights
Rare ACAN gene variants can cause short stature and skeletal issues. This study highlights a novel variant in a girl with genu valgum and recurrent patellar dislocations, expanding the known ACAN-related skeletal dysplasias.
Area of Science:
- Genetics
- Pediatric Endocrinology
- Skeletal Dysplasias
Background:
- Acanthosis (ACAN) gene variants are linked to diverse skeletal abnormalities, including short stature and advanced bone age.
- These variants can present with varied clinical features, necessitating broader diagnostic considerations.
Observation:
- A 9-year-old girl, born small for gestational age (SGA), exhibited short stature and was initially diagnosed with idiopathic growth hormone deficiency.
- She presented with dysmorphic features such as genu valgum, cubitus valgus, and recurrent patellar dislocations, alongside progressive bone age advancement.
Findings:
- Whole exome sequencing identified a novel heterozygous nonsense variant (c.1968C>G, p.(Tyr656*)) in the ACAN gene.
- This genetic finding confirms ACAN defect as the cause of the observed rare clinical manifestations.
Implications:
- ACAN variants should be considered in the differential diagnosis of short stature in patients born SGA, especially those with joint abnormalities.
- The findings expand the phenotypic spectrum of ACAN-related skeletal disorders, emphasizing the importance of genetic testing in complex cases.
Abstract:
ACAN variants can manifest as various clinical features, including short stature, advanced bone age (BA), and skeletal defects. Here, we report rare clinical manifestations of ACAN defects in a 9 year, 5 month-old girl born small for gestational age (SGA), who presented with short stature, and was initially diagnosed with idiopathic growth hormone deficiency. She displayed several dysmorphic features, including genu valgum, cubitus valgus, and recurrent patellar dislocations. She presented with progressive advancement of BA compared with chronological age. Whole exome sequencing confirmed the presence of a novel heterozygous nonsense variant, c.1968C>G, p.(Tyr656*), in ACAN. ACAN variants should be considered in short stature patients born SGA with joint problems, particularly those with recurrent patellar dislocation and genu valgum.
