RESUMEN
Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3 gene (TBX3), with considerable variability in the clinical phenotype being observed even within families. We describe a one-year-old female with unilateral, postaxial polydactyly, and bilateral fifth fingernail duplication. Next-generation sequencing revealed a novel, likely pathogenic, variant predicted to affect the canonical splice site in intron 3 of the TBX3 gene (c.804 + 1G > A, IVS3 + 1G > A). This variant was inherited from the proband's father who was also diagnosed with UMS with the additional clinical finding of congenital, sagittal craniosynostosis. Subsequent whole genome analysis in the proband's father detected a variant in the EFNA4 gene (c.178C > T, p.His60Tyr), which has only been reported to be associated with sagittal craniosynostosis in one patient prior to this report but reported in other cranial suture synostosis. The findings in this family extend the genotypic spectrum of UMS, as well as the phenotypic spectrum of EFNA4-related craniosynostosis.
Asunto(s)
Anomalías Múltiples , Enfermedades de la Mama , Craneosinostosis , Anomalías Múltiples/genética , Enfermedades de la Mama/genética , Craneosinostosis/genética , Femenino , Humanos , Proteínas de Dominio T Box/genética , Cúbito/anomalíasRESUMEN
BACKGROUND: Amaranthus palmeri recently has been brought into the Midwestern USA as a contaminant in Conservation Reserve Program seeding mixes. Rapid species screening is required to mitigate the risk of continued species movement. RESULTS: Markers were developed for A. palmeri-specific nucleotide polymorphisms in the internal transcribed spacer of the ribosomal coding region. A quantitative polymerase chain reaction (qPCR) assay successfully identified A. palmeri from single-plant samples, simulated mixed-plant samples and seed mixtures. CONCLUSION: A qPCR assay for distinguishing A. palmeri from 12 other Amaranthus spp. was developed and validated. The assay can consistently detect a single A. palmeri seed when present in a pool of 100 total Amaranthus spp. seeds. © 2017 Society of Chemical Industry.