Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?
Lucknow, India. In Am J Med Genet A, Dec 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
Molecular genetic testing for MESP2, the only gene known to be associated with spondylothoracic dysostosis, is available on a clinical basis.
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.
Скопје, Macedonia. In Am J Med Genet A, 2010
The four known monogenic forms of SCD follow autosomal recessive inheritance, have generalized SDV, a broadly symmetrical thoracic cage, and result from mutations in Notch signaling pathway genes-DLL3, MESP2, LFNG, and HES7.
Spondylocostal Dysostosis, Autosomal Recessive
Seattle, United States. In Unknown Journal, 2009
Subtypes are defined by identification of two mutant alleles in any one of the four genes known to be associated with autosomal recessive (AR) SCDO: DLL3, MESP2, LFNG, and HES7.
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.