Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.
J Hum Genet
; 55(11): 761-3, 2010 Nov.
Article
in En
| MEDLINE
| ID: mdl-20686492
ABSTRACT
Phenotypic variation in CHARGE syndrome remains unexplained. A subcategory of CHARGE patients show overlapping phenotypic characteristics with DiGeorge syndrome (thymic hypo/aplasia, hypocalcemia, T-cell immunodeficiency). Very few have been tested or reported to carry a mutation of the CHD7 (chromodomain helicase DNA-binding domain) gene detected in two-thirds of CHARGE patients. In an attempt to explore the genetic background of a severe CHARGE/DiGeorge phenotype, we performed comparative genomic array hybridization in an infant carrier of a CHD7 mutation. The high-resolution comparative genomic array hybridization revealed interesting findings, including a deletion distal to the DiGeorge region and disruptions in other chromosomal regions of genes implicated in immunological and other functions possibly contributing to the patient's severe phenotype and early death.
Full text:
1
Database:
MEDLINE
Main subject:
Sequence Deletion
/
DNA Helicases
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DiGeorge Syndrome
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DNA-Binding Proteins
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Comparative Genomic Hybridization
/
CHARGE Syndrome
/
Mutation
Limits:
Humans
/
Infant
/
Male
Language:
En
Year:
2010
Type:
Article