New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth .
Idiopathic short stature is a common condition with a heterogeneous etiology. Advances in genetic methods, including genome sequencing techniques and bioinformatics approaches, have emerged as important tools to identify the genetic defects in families with monogenic short stature. These findings have contributed to the understanding of growth regulation and indicate that growth plate chondrogenesis, and therefore linear growth, is governed by a large number of genes important for different signaling pathways and cellular functions, including genetic defects in hormonal regulation, paracrine signaling, cartilage matrix, and fundamental cellular processes. In addition, mutations in the same gene can cause a wide phenotypic spectrum depending on the severity and mode of inheritance of the mutation. .
Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Anenisia C
AC
Andrade
Section of Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Youn Hee
YH
Jee
Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.|Department of Medical Sciences, Örebro University and University Hospital, Örebro, Sweden.
Ola
O
Nilsson
D001827:Body Height / Q000235:genetics*; D002648:Child; D002657:Child Development / Q000502:physiology*; D020219:Chondrogenesis / Q000235:genetics; D015894:Genome, Human; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D019382:Human Growth Hormone / Q000235:genetics; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics; D009154:Mutation
D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I
Genome sequencing ; Growth plate; Idiopathic short stature; Short stature; Skeletal dysplasia