High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.

CONCLUSIONS: ACAN pathogenic variants presented a common cause of familial ISS. The selection criteria used in our study were suggested for a personalized approach to genetic testing of ACAN gene in clinical practice. Our results expanded the number of pathogenic ACAN variants, including the first intragenic deletion, and suggested CNV evaluation in patients with typical clinical features of aggrecanopathy as reasonable. Intra-familial phenotypic variability in growth patterns should be considered.
PMID: 31841439 [PubMed - as supplied by publisher]

Source: European Journal of Endocrinology - November 30, 2019 Category: Endocrinology Authors: Stavber L, Hovnik T, Kotnik P, Lovrečić L, Kovac J, Tesovnik T, Bertok S, Dovč K, Debeljak M, Battelino T, Avbelj Stefanija M Tags: Eur J Endocrinol Source Type: research