Open Access Case report

Unique phenotype in a patient with CHARGE syndrome

Shobhit Jain1, Hyung-Goo Kim2, Felicitas Lacbawan3, Irene Meliciani4, Wolfgang Wenzel4, Ingo Kurth5, Josefina Sharma6, Morris Schoeneman6, Svetlana Ten1, Lawrence C Layman2 and Elka Jacobson-Dickman1*

Author Affiliations

1 State University of New York Downstate Medical Center, Children's Hospital at Downstate, Department of Pediatrics, Division of Pediatric Endocrinology, Brooklyn, NY 11203 USA

2 Institute of Molecular Medicine and Genetics, The Medical College of Georgia, Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Augusta, GA 30912, USA

3 State University of New York Downstate Medical Center, Department of Pathology, Division of Molecular Pathology, Brooklyn, NY 11203, USA

4 Institute of Nanotechnology, Karlsruhe Institute of Technology, PO Box 3640. 76021 Karlsruhe, Germany

5 Institute of Human Genetics, University Hospital Jena Kollegiengasse 1007743 Jena, Germany

6 State University of New York Downstate Medical Center, Children's Hospital at Downstate, Department of Pediatrics, Division of Pediatric Nephrology, Brooklyn, NY 11203 USA

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International Journal of Pediatric Endocrinology 2011, 2011:11  doi:10.1186/1687-9856-2011-11

Published: 13 October 2011

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.