title: Unique phenotype in a patient with CHARGE syndrome.
abstract: 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.
authors: State University of New York Downstate Medical Center, Children's Hospital at Downstate, Department of Pediatrics, Division of Pediatric Endocrinology, Brooklyn, NY 11203 USA. Elka.Jacobson-Dickman@downstate.edu.
authors: Shobhit
authors: S
authors: Jain
authors: Hyung-Goo
authors: HG
authors: Kim
authors: Felicitas
authors: F
authors: Lacbawan
authors: Irene
authors: I
authors: Meliciani
authors: Wolfgang
authors: W
authors: Wenzel
authors: Ingo
authors: I
authors: Kurth
authors: Josefina
authors: J
authors: Sharma
authors: Morris
authors: M
authors: Schoeneman
authors: Svetlana
authors: S
authors: Ten
authors: Lawrence C
authors: LC
authors: Layman
authors: Elka
authors: E
authors: Jacobson-Dickman