Unique phenotype in a patient with CHARGE syndrome

CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider spectrum of features are emerging, and overlap with disorders such as DiGeorge syndrome, Kallmann syndrome, and Hypoparathyroidism Sensorineural Deafness and Renal Disease syndrome, is increasingly evident. We present a patient with a unique manifestation of CHARGE syndrome, including primary hypoparathyroidism and a limb anomaly; to our knowledge, he is also the first CHARGE subject reported with bilateral multicystic dysplastic kidneys. Furthermore, with structural modeling and murine expression studies, we characterize a putative CHD7 G744S missense mutation. Our report continues to expand the CHARGE phenotype and highlights that stringent fulfillment of conventional criteria should not strictly guide genetic analysis

Oligogalacturonide-induced changes in the nuclear proteome of Arabidopsis thaliana

Oligogalacturonides (OGs), derived from the degradation of the plant cell wall homogalacturonan, are elicitors of plant defence responses. A proteomic study of the nuclear compartment was carried out in Arabidopsis thaliana seedlings in order to identify proteins whose abundance varied in response to OGs. A nuclear protein map was obtained and 72 spots corresponding to 58 different proteins were identified by MALDI-ToF mass spectrometry. OG-induced changes in protein spot abundance were studied by two-dimensional difference in gel electrophoresis (2D-DIGE). Significant changes in protein abundance were observed for 19 protein spots. Proteins responding to the OG treatment were mainly involved in the protein translation machinery and regulation suggesting a general reprogramming of the plant cell metabolism in response to OGs