Heterozygous mutations in the ACAN, encoding for aggrecan or cartilage-specific proteoglycan protein, are associated with short stature with advanced skeletal maturation and skeletal dysplasia. A 2 years 7 month-old girl born small for gestational age presented with proportionate short stature (height 79.9 cm, SDS, −3.23) and bone age was delayed about 1year less than her chronologic age. She was born as small for gestational age.(38 weeks and 5 days of gestational age, birth weight of 2.3 kg (SDS, −2.25), birth length of 44.6 cm (SDS, −2.44) and head circumference of 30.4 cm (SDS −2.94)). Her fathers height SDS was −1.57 and that of mother was −0.63. Karyotype test showed normal 46,XX. Exome sequencing, confirmed by Sanger sequencing, identified a novel missense mutation in ACAN (c.1927T>C), predicted to be deleterious by both SIFT and PolyPhen-2 analysis. Genetic tests for her family are in processing.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology