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, Shobhit; Kim, Hyung-Goo; Lacbawan, Felicitas; Meliciani, Irene; Wenzel, Wolfgang; Kurth, Ingo; Sharma, Josefina; Schoeneman, Morris; Ten, Svetlana; Layman, Lawrence C.; and Jacobson-Dickman, Elka, "Unique phenotype in a patient with CHARGE syndrome." (2011). Manuscripts, Articles, Book Chapters and Other Papers. 1285.