Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, CRC, Room 1-3330, 10 Center Drive MSC 1103, Bethesda, MD 20892-1103, USA.
Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Solnavägen 1, Solna 171 77, Sweden.
Endocrinol Metab Clin North Am. 2017 Jun;46(2):259-281. doi: 10.1016/j.ecl.2017.01.001. Epub 2017 Feb 23.
Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of the underlying molecular mechanisms of longitudinal bone growth and growth failure. Identifying new genetic causes of growth disorders has the potential to improve diagnosis, prognostic accuracy, and individualized management, and help avoid unnecessary testing for endocrine and other disorders.
身材矮小是一种常见且异质性的病症，其病因通常与遗传有关。对于大多数遗传性身材矮小的儿童，具体的分子病因仍不清楚；但随着外显子/基因组测序和生物信息学方法的进步，新的生长障碍的遗传原因已被确定，有助于理解纵向骨骼生长和生长障碍的潜在分子机制。确定新的生长障碍的遗传原因有可能改善诊断、预后准确性和个体化管理，并有助于避免对内分泌和其他疾病进行不必要的检查。
