Re: this information was sent to me

[Guest guest]

Hi ,

Can view the rest of the information that you have.. that is really

interesting. looks like Charge is becoming alot less as rare as I thought it

was.

mum to Hayley 3yrs old

Australia

michelle cleopatra77465@...> wrote:

i have more if you want it

CHARGE syndrome (MIM 214800) is a distinctive syndrome with a complex

constellation of multiple congenital anomalies. The incidence of

CHARGE syndrome may be as high as 1 in 8, 500 births (Issekutz et al.

2005). It is characterized by variable occurrence of coloboma,

choanal atresia or cleft lip and/or palate, cranial nerve

dysfunction, characteristic external ear malformations with distinct

temporal bone anomalies, cardiovascular malformations, and

hypogonadotropic hypogonadism with genitourinary anomalies (Hall

1979; Hittner et al. 1979; Pagon et al. 1981; Blake et al. 1998).

Inner ear defects, including Mondini malformation and/or semicircular

canal hypoplasia/aplasia are common and often cause hearing loss and

vestibular abnormalities in the affected individuals (Amiel et al.

2001). Many types of cardiovascular malformations have been reported,

but conotruncal and aortic arch malformations appear to be more

common than the others (Blake et al. 1998). Growth delay, distinctive

facial features, Di sequence, and tracheoesophageal fistula are

some of the additional clinical features of this condition. In the 25

years since its initial characterization, the diagnostic criteria for

the original CHARGE acronym were revised and standardized (Blake et

al. 1998), with a further proposal to update them (Verloes 2005).

What was considered a prototypic " association " is now viewed as a

syndrome in many well-defined cases (Lubinsky 1994), for which the

name " Hall-Hittner syndrome " may also apply (Graham 2001). Vissers et

al. (2004) reported mutations in the CHD7 gene, which encodes

chromodomain helicase DNA-binding protein, in ~60% of individuals

with CHARGE syndrome. Chromatin remodeling is a recognized mechanism

of gene-expression regulation, and the CHD7 gene is likely to play a

significant role in embryonic development and cell-cycle regulation

(Woodage et al. 1997). The prevalence of CHD7 mutations in a large

cohort of individuals with CHARGE syndrome and the possible

correlation of specific mutations with clinical characteristics have

not been formally addressed. We report the systematic molecular and

phenotypic evaluation of 110 individuals with clinical CHARGE

syndrome. We identified mutations in the CHD7 gene in 58% (64/110) of

the affected individuals and analyzed the phenotypic data of the

study cohort, using multivariate analysis conditional on the mutation

status. Our results indicate significant phenotypic differences

between CHD7 mutation carriers and noncarriers and are consistent

with locus heterogeneity as the likely explanation for the group of

individuals with CHARGE syndrome whose sequence analysis of CHD7 was

normal. Nucleotide sequence data reported herein are available in the

DDBJ/EMBL/GenBank databases; for details, see the Web Resources

section.

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