Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?
Lucknow, India. In Am J Med Genet A, 2012
Results of cytogenetic and molecular genetic tests performed, including routine karyotype, MLPA (multiplex ligation-dependent probe amplification) for common microdeletions and subtelomeric copy number variants, microarray-CGH analysis, and sequencing of four Notch signaling pathway genes (DLL3, MESP2, LFNG, and HES7), were all normal.
Seattle, United States. In Unknown Journal, 2010
MESP2 is the only gene known to be associated with spondylothoracic dysostosis.
Defective somitogenesis and abnormal vertebral segmentation in man.
Exeter, United Kingdom. In Adv Exp Med Biol, 2007
Only a minority of abnormal segmentation phenotypes appear to follow Mendelian inheritance but three genes--DLL3, MESP2 and LNFG--have now been identified for spondylocostal dysostosis (SCD), a spinal malformation characterized by extensive hemivertebrae, trunkal shortening and abnormally aligned ribs with points of fusion.