Biallelic SEMA3A defects cause a novel type of syndromic short stature

Hofmann, Kristin; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane; Wittmann, Wolfgang; Hoyer, Juliane; Uebe, Steffen; van Haeringen, Arie; Thiel, Christian T; Ekici, Arif B; Reis, André; Rauch, Anita

doi:10.5167/uzh-192528

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Hofmann, K., Zweier, M., Sticht, H., Zweier, C., Wittmann, W., Hoyer, J., Uebe, S., van Haeringen, A., Thiel, C. T., Ekici, A. B., Reis, A., & Rauch, A. (2013). Biallelic SEMA3A defects cause a novel type of syndromic short stature. American Journal of Medical Genetics. Part A, 161A(11), 2880–2889. https://doi.org/10.1002/ajmg.a.36250

Abstract

Chromosomal microarray testing is commonly used to identify disease causing de novo copy number variants in patients with developmental delay and multiple congenital anomalies. In such a patient we now observed an 150 kb deletion on chromosome 7q21.11 affecting the first exon of the axon guidance molecule gene SEMA3A (sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A). This deletion was inherited from the healthy father, but considering the function of SEMA3A and phenotypic similarity to the knock-