Genetics of Short Stature

Jee, Youn Hee; Andrade, Anenisia C.; Baron, Jeffrey; Nilsson, Ola

doi:10.1016/j.ecl.2017.01.001

Cited by 47 publications

(25 citation statements)

References 149 publications

(143 reference statements)

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“…An abnormal SH/H ratio is an important feature at physical examination of children and adults with short or tall stature [8, 19], since it is suggestive for a form of skeletal dysplasia or syndromic tall stature. Its importance has increased in the last decade when several relatively mild skeletal dysplasias were discovered caused by haploinsufficiency of SHOX , NPR2 , ACAN , IHH and NCCP (for reviews, see [19, 20]). In carriers of such variants, an increased mean SH/H ratio SDS was one of the crucial clinical features.…”

Section: Discussionmentioning

confidence: 99%

Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

Gerver¹,

Gkourogianni²,

Dauber³

et al. 2020

Horm Res Paediatr

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Background/Objectives: In the clinical assessment of a short or tall child, estimating body disproportion is useful to assess the likelihood of a primary growth disorder, e.g., skeletal dysplasia. Our objectives were (1) to use data from the Maastricht study on healthy children (2-17 years) to calculate relative arm span (AS) for height (H) to serve as age references for clinical purposes; (2) to assess its age and sex dependency; and (3) to investigate relative AS adjustment for age and sex in individuals with ACAN haploinsufficiency. Methods: The Maastricht study data (2,595 Caucasian children, 52% boys, 48% girls) were re-analysed to produce reference tables and graphs for age and sex of ASH and AS/H. Published information on AS/H in Europeans was used as reference data for adults. Relative AS from 33 patients with ACAN haploinsufficiency were plotted against reference data and expressed as standard deviation score (SDS) for age and sex.

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Section: Discussionmentioning

confidence: 99%

Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

Gerver¹,

Gkourogianni²,

Dauber³

et al. 2020

Horm Res Paediatr

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“…Childhood growth is the result of chondrogenesis at the growth plates which are located at the ends of long tubular bones and vertebrae [1]. The growth plate is composed of 3 distinct layers in which chondrocytes undergo proliferation and differentiation in a spatially and temporally regulated manner in order to produce new cartilage and direct growth in primarily one dimension [2].…”

Section: Introductionmentioning

confidence: 99%

New developments in the genetic diagnosis of short stature

Jee

Baron

Nilsson

2018

Current Opinion in Pediatrics

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Isolated growth disorders are often monogenic. Specific genetic causes typically have specific biochemical and/or phenotype characteristics which are diagnostically helpful. Identification of additional subjects with a specific genetic cause of short stature often leads to a broadening of the known clinical spectrum for that condition. The identification of novel genetic causes of short stature has provided important insights into the underlying molecular mechanisms of growth failure.

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“…RZ, resting zone; PZ, proliferative zone; HZ, hypertrophic zone. Modified from Jee YH, et al Endocrinol Metab Clin North Am 2017;46:259-81 [15].…”

Section: Figmentioning

confidence: 99%

Genetic regulation of linear growth

Yue

Whalen

Jee

2019

Ann Pediatr Endocrinol Metab

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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.

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Genetics of Short Stature

Cited by 47 publications

References 149 publications

Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

New developments in the genetic diagnosis of short stature

Genetic regulation of linear growth

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