ESPE Abstracts (2018) 89 P-P3-415

Case Report: Novel ACAN Mutation in a SGA Short Stature without Accelerated Skeletal Maturation

So Eun Parka & Ahn Sung Yeonb

aCHA Medical University, Seoul, Republic of Korea; bUlsan University Hospital, Ulsan, Republic of Korea

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 father’s 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.

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