Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature.@*METHODS@#A retrospective analysis was carried out for the clinical data and results of genetic testing for the probands. A literature search was also conducted.@*RESULTS@#The five probands have all featured short stature with a family history. Genetic testing has revealed that they have harbored variants of the ACAN gene, including p.Val2042Argfs*6, p.Val1597del, c.630-1G>A, c.23delT and c.2026+1G>A(previously reported).@*CONCLUSION@#Except for short stature, children harboring heterozygous variants of the ACAN gene may have no involvement of other systems. Some of these children may response to short-term growth hormone treatment.