Hdl Handle:
http://hdl.handle.net/10675.2/683
Title:
Unique phenotype in a patient with CHARGE syndrome
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
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
Issue Date:
13-Oct-2011
URI:
http://hdl.handle.net/10675.2/683
DOI:
10.1186/1687-9856-2011-11
PubMed ID:
21995344
PubMed Central ID:
PMC3216247
Type:
Article
ISSN:
1687-9856
Appears in Collections:
Institute of Molecular Medicine and Genetics: Faculty Research and Presentations

Full metadata record

DC FieldValue Language
dc.contributor.authorJain, Shobhiten_US
dc.contributor.authorKim, Hyung-Gooen_US
dc.contributor.authorLacbawan, Felicitasen_US
dc.contributor.authorMeliciani, Ireneen_US
dc.contributor.authorWenzel, Wolfgangen_US
dc.contributor.authorKurth, Ingoen_US
dc.contributor.authorSharma, Josefinaen_US
dc.contributor.authorSchoeneman, Morrisen_US
dc.contributor.authorTen, Svetlanaen_US
dc.contributor.authorLayman, Lawrence Cen_US
dc.contributor.authorJacobson-Dickman, Elkaen_US
dc.date.accessioned2012-10-26T16:29:32Z-
dc.date.available2012-10-26T16:29:32Z-
dc.date.issued2011-10-13en_US
dc.identifier.citationInt J Pediatr Endocrinol. 2011 Oct 13; 2011(1):11en_US
dc.identifier.issn1687-9856en_US
dc.identifier.pmid21995344en_US
dc.identifier.doi10.1186/1687-9856-2011-11en_US
dc.identifier.urihttp://hdl.handle.net/10675.2/683-
dc.description.abstractCHARGE 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.en_US
dc.rightsCopyright ©2011 Jain et al; licensee BioMed Central Ltd.en_US
dc.subjectCase Reporten_US
dc.titleUnique phenotype in a patient with CHARGE syndromeen_US
dc.typeArticleen_US
dc.identifier.pmcidPMC3216247en_US
dc.contributor.corporatenameInstitute of Molecular Medicine and Genetics-

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