Charge

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UNIVERSITY AT BUFFALO, STATE UNIVERSITY OF NEW YORK

CHARGE Syndrome

Research Paper for MT 432

Omkar Potnis

11/22/2011

CHARGE syndrome is a highly variable, multiple congenital anomaly syndrome. De novo mutations in CHD7 gene is the major cause of the syndrome. This paper reviews the common clinical manifestations of the syndrome. It also highlights the genetic studies on the disease as well as provides insight into the diagnosis and therapy for the syndrome.

CHARGE Syndrome

Introduction

First identified by Hall in 1979, CHARGE Syndrome (also called “Hall-Hittner syndrome”) is a multiple congenital anomaly syndrome that can be life-threatening in the neonatal period. It is an acronym (coined by Pagon in 1981) which describes a constellation of common defects: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth or development, genital hypoplasia and ear malformations. This non-random pattern was earlier termed as “association”, but due its recognizable and specific pattern of malformations, this disorder has been renamed as a “syndrome”. It is an autosomal dominant condition primarily caused by mutations in the CHD7 gene. The incidence of this syndrome is 1 in 10,000-15,000 births. It is also the leading cause of deaf-blindness. Children with CHARGE syndrome require intensive clinical management for their problems with airways, feeding, speech, hearing, heart defects, vision and hypogonadism.

Genetics

The CHD7 gene, located on 8q12.1 encodes chromodomain helicase DNA-binding protein 7 (CHD 7 protein). Its size is 188kb and it codes for a 2997 amino-acid protein The CHD7 gene is also expressed in many fetal and adult tissues including the eye, cochlea, brain, central nervous system, stomach, intestine, skeleton, heart, kidney, lung and liver. De novo mutations in this gene are...