Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Hauer N, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG, Thiel C (2017)

Publication Type: Journal article

Publication year: 2017

Journal

Scientific Reports Nature Publishing Group: Open Access Journals - Option B

Book Volume: 7

Pages Range: 12225

Journal Issue: 1

DOI: 10.1038/s41598-017-12465-6

Abstract

Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the identification of the underlying cause in about 80% of the patients. Recently, heterozygous mutations in the ACAN gene coding for the proteoglycan aggrecan, a main component of the cartilage matrix, were associated with idiopathic short stature. To ascertain the prevalence of ACAN mutations and broaden the phenotypic spectrum in patients with idiopathic short stature we performed sequence analyses in 428 families. We identified heterozygous nonsense mutations in four and potentially disease-causing missense variants in two families (1.4%). These patients presented with a mean of -3.2 SDS and some suggestive clinical characteristics. The results suggest heterozygous mutations in ACAN as a common cause of isolated as well as inherited idiopathic short stature.

Authors with CRIS profile

Nadine Hauer Lehrstuhl für Humangenetik Heinrich Sticht Professur für Bioinformatik Christian Büttner Lehrstuhl für Humangenetik Christiane Zweier Lehrstuhl für Humangenetik Steffen Uebe Institute of Human Genetics Arif Bülent Ekici Institute of Human Genetics André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Helmuth-Günther Dörr Professur für Kinderheilkunde mit dem Schwerpunkt Kinder-Endokrinologie und Diabetologie (Stiftungsprofessur) Christian Thiel Medizinische Fakultät

Involved external institutions

Otto-von-Guericke-Universität Magdeburg DE Germany (DE) Universität Leipzig DE Germany (DE) Universität Duisburg-Essen (UDE) DE Germany (DE) Universitätsklinikum des Saarlandes (UKS) DE Germany (DE)

How to cite

APA:

Hauer, N., Sticht, H., Boppudi, S., Büttner, C., Kraus, C., Trautmann, U.,... Thiel, C. (2017). Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Scientific Reports, 7(1), 12225. https://doi.org/10.1038/s41598-017-12465-6

MLA:

Hauer, Nadine, et al. "Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature." Scientific Reports 7.1 (2017): 12225.

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