hrp0094p1-126 | Growth A | ESPE2021

Identification and tissue-specific characterization of novel SHOX-regulated genes in zebrafish highlights SOX family members among other genes

Hoffmann Sandra , Roeth Ralph , Diebold Sabrina , Gogel Jasmin , Hassel David , Just Steffen , Rappold Gudrun A ,

SHOX deficiency causes a spectrum of clinical phenotypes related to skeletal dysplasia and short stature, including Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Turner syndrome, and idiopathic short stature. SHOX controls chondrocyte proliferation and differentiation, bone maturation, cellular growth arrest and apoptosis via transcriptional regulation of its direct target genes NPPB, FGFR3, and CTGF. However, our u...

hrp0094p2-308 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes

Weiss Birgit , Eberle Birgit , Roeth Ralph , de Bruin Christiaan , Lui Julian C , Paramasivam Nagarajan , Hinderhofer Katrin , van Duyvenvoorde Hermine A , Baron Jeffrey , Wit Jan M , Rappold Gudrun A ,

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

hrp0092fc5.5 | Thyroid | ESPE2019

Identification of TRPC4AP as a Novel Candidate Gene Causing Thyroid Dysgenesis

Eberle Birgit , Choukair Daniela , Vick Philipp , Hermanns Pia , Weiß Birgit , Paramasivam Nagarajan , Schlesner Matthias , Wiemann Stefan , Roeth Ralph , Klutmann Carina , Hoffmann Georg F. , Pohlenz Joachim , Rappold Gudrun A. , Bettendorf Markus

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...