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    Unique phenotype in a patient with CHARGE syndrome

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    Authors
    Jain, Shobhit
    Kim, Hyung-Goo
    Lacbawan, Felicitas
    Meliciani, Irene
    Wenzel, Wolfgang
    Kurth, Ingo
    Sharma, Josefina
    Schoeneman, Morris
    Ten, Svetlana
    Layman, Lawrence C
    Jacobson-Dickman, Elka
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    Issue Date
    2011-10-13
    URI
    http://hdl.handle.net/10675.2/683
    
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    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.
    Citation
    Int J Pediatr Endocrinol. 2011 Oct 13; 2011(1):11
    ae974a485f413a2113503eed53cd6c53
    10.1186/1687-9856-2011-11
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    Institute of Molecular Medicine and Genetics: Faculty Research and Presentations

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