Whole exome sequencing to identify genetic causes of short stature.

Editorial: The Post-Exome Era

The Iranian Rehabilitation Journal (IRJ) invites research papers on the genetic basis of single gene and complex disorders. This vastly dynamic branch of science will complement the multidisciplinary wealth of expertise in the fields of social welfare and rehabilitation. The past few years have witnessed outstanding research projects on the genetic causes of numerous debilitating disorders, suc...

Identification of the rs797045105 in the SERAC1 gene by Whole-Exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...

Whole Exome Sequencing and Large-Scale Targeted Sequencing to Identify Novel Candidate Genes in Idiopathic Short Stature

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

CONTEXT Severe short stature can be caused by defects in numerous biological processes including defects in IGF-1 signaling, centromere function, cell cycle control, and DNA damage repair. Many syndromic causes of short stature are associated with medical comorbidities including hypogonadism and microcephaly. OBJECTIVE To identify an underlying genetic etiology in two siblings with severe sho...

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in ho...