Genetic regulation of linear growth

Abstract

Linear growth occurs at the growth plate. Therefore, genetic defects that interfere with the normal function of the growth plate can cause linear growth disorders. Many genetic causes of growth disorders have already been identified in humans. However, recent genome-wide approaches have broadened our knowledge of the mechanisms of linear growth, not only providing novel monogenic causes of growth disorders but also revealing single nucleotide polymorphisms in genes that affect height in the general population. The genes identified as causative of linear growth disorders are heterogeneous, playing a role in various growth-regulating mechanisms including those involving the extracellular matrix, intracellular signaling, paracrine signaling, endocrine signaling, and epigenetic regulation. Understanding the underlying genetic defects in linear growth is important for clinicians and researchers in order to provide proper diagnoses, management, and genetic counseling, as well as to develop better treatment approaches for children with growth disorders.

Investigating whether serum IGF-1 and IGFBP-3 levels reflect the height outcome in prepubertal children upon rhGH therapy: LG growth study database

“…We presented IGF-I and IGFBP-3 as growth markers. IGF-1 receptor (IGF-IR) dysfunctions and a reduced number of IGF-IR via gene mutations could lead to IGF-I insensitivity [ 37 ]. Single nucleotide polymorphisms in the IGFBP-3-coding region are associated with height variation [ 37 ].…”

“…IGF-1 receptor (IGF-IR) dysfunctions and a reduced number of IGF-IR via gene mutations could lead to IGF-I insensitivity [ 37 ]. Single nucleotide polymorphisms in the IGFBP-3-coding region are associated with height variation [ 37 ]. Especially, the A allele in the IGFBP-3 promoter region reportedly causes an increase in IGFBP-3 expression, which reflects the growth rate in rhGH therapy in prepubertal children with GHD [ 38 ] and Turner syndrome [ 39 ], but not ISS [ 40 ].…”

“…As IGF-I and IGFBP-3 levels were measured at different institutions, this could contribute to a measurement bias. However, IGF-I and IGFBP-3 measurements were higher standardized, which were converted to SDS values by LGS [ 37 ]. Fifth, all the subjects were not tested using the same GH stimulation test.…”

Gene polymorphisms in leptin and its receptor and the response to growth hormone treatment in patients with idiopathic growth hormone deficiency

“…Recently, from genome-wide association study (GWAS) to next-generation sequencing (NGS), the rapid progress of molecular technologies has helped us identify novel genetic causes of SS or single nucleotide polymorphisms (SNPs) of various genes [3]. Yang et al reported that the contribution of common SNPs to the height phenotype is 40% based on GWAS [4].…”

Perbedaan Gangguan Psikososial dan Fungsi Kognitif antara Remaja Pendek dengan Indeks Massa Tubuh Rendah dan Normal di Sekolah Menengah Pertama Kota Surakarta

“…Adanya mutasi pada gen tertentu seperti mutasi pada gen ACAN, FBN1, COL9A2, IGF1R dapat menimbulkan manifestasi klinis perawakan pendek pada bayi hingga remaja. 1,5,6 Remaja merupakan masa transisi antara anak menjadi dewasa. Pada masa ini terjadi pacu tumbuh berat badan dan tinggi badan.…”