Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature

Abstract

Introduction: Isolated Short Stature Homeobox (SHOX) gene haploinsufficiency can be found in 2-15% of individuals diagnosed with idiopathic short stature determining different skeletal phenotypes.Case presentation: We present the history of an 11-year-old female patient diagnosed with idiopathic short stature. Clinically, she was moderately disproportionate, with cubitus valgus and palatum ogivale. Her breast development was in Tanner stage 1 at the time of diagnosis. The endocrine diagnostic tests did not reveal any abnormalities except a slightly elevated thyroid stimulating hormone. We have also assessed the bone radiological findings. Multiplex Ligation-dependent Probe Amplification technique used for the identification of SHOX gene haploinsufficiency showed a heterozygous deletion spanning exons 4-5 of SHOX gene.Conclusions: This case is determined by deletions in exons 4-5 of SHOX gene and indicates the necessity of screening for SHOX deletions in patients diagnosed with idiopathic short stature, especially in children having increased sitting height-to-height ratio or decreased extremities-to-trunk ratio.

Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan

“…SHOX haploinsufficiency results from heterozygous point mutations in the coding exons and/or copy number variation (CNV) in SHOX and/or the upstream and downstream enhancer regions of SHOX . In addition to LWD, heterozygous alterations have also been reported in individuals with different short stature syndromes, such as idiopathic short stature (ISS; OMIM 300582) without skeletal phenotypes, which accounts for 2%–16% of children [2,11,17,18,19], and Turner syndrome (OMIM 127300) [14,19,20]. Moreover, the loss of both SHOX alleles due to homozygous or compound heterozygous leads to the complete lack of SHOX and causes a severe and extreme phenotype of osteodysplasia called Langer mesomelic dysplasia (LMD; OMIM 249700) [2,21,22].…”