Unique phenotype in a patient with CHARGE syndrome
dc.contributor.author | Jain, Shobhit | |
dc.contributor.author | Kim, Hyung-Goo | |
dc.contributor.author | Lacbawan, Felicitas | |
dc.contributor.author | Meliciani, Irene | |
dc.contributor.author | Wenzel, Wolfgang | |
dc.contributor.author | Kurth, Ingo | |
dc.contributor.author | Sharma, Josefina | |
dc.contributor.author | Schoeneman, Morris | |
dc.contributor.author | Ten, Svetlana | |
dc.contributor.author | Layman, Lawrence C | |
dc.contributor.author | Jacobson-Dickman, Elka | |
dc.date.accessioned | 2012-10-26T16:29:32Z | |
dc.date.available | 2012-10-26T16:29:32Z | |
dc.date.issued | 2011-10-13 | en_US |
dc.identifier.citation | Int J Pediatr Endocrinol. 2011 Oct 13; 2011(1):11 | en_US |
dc.identifier.issn | 1687-9856 | en_US |
dc.identifier.pmid | 21995344 | en_US |
dc.identifier.doi | 10.1186/1687-9856-2011-11 | en_US |
dc.identifier.uri | http://hdl.handle.net/10675.2/683 | |
dc.description.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. | |
dc.rights | Copyright ©2011 Jain et al; licensee BioMed Central Ltd. | en_US |
dc.subject | Case Report | en_US |
dc.title | Unique phenotype in a patient with CHARGE syndrome | en_US |
dc.type | Article | en_US |
dc.identifier.pmcid | PMC3216247 | en_US |
dc.contributor.corporatename | Institute of Molecular Medicine and Genetics | |
refterms.dateFOA | 2019-04-10T00:32:13Z | |
html.description.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. |