Unique phenotype in a patient with CHARGE syndrome

Date

2011-10-13

Authors

Jain, Shobhit
Kim, Hyung-Goo
Lacbawan, Felicitas
Meliciani, Irene
Wenzel, Wolfgang
Kurth, Ingo
Sharma, Josefina
Schoeneman, Morris
Ten, Svetlana
Layman, Lawrence C

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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.

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Keywords

Case Report

Citation

Int J Pediatr Endocrinol. 2011 Oct 13; 2011(1):11