PMCID: PMC3216247 DOI: 10.1186/1687-9856-2011-11
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.
Int J Pediatr Endocrinol
CHARGE Syndrome; Phenotype; Multicystic Dysplastic Kidney
Jain, S., Kim, H., Lacbawan, F., Meliciani, I., Wenzel, W., Kurth, I., Sharma, J., Schoeneman, M., Ten, S., Layman, L. C., Jacobson-Dickman, E. Unique phenotype in a patient with CHARGE syndrome. Int J Pediatr Endocrinol 2011, 11-11 (2011).