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Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome
- Source :
- Gene. 576(2 Pt 2)
- Publication Year :
- 2015
-
Abstract
- We are grateful to the families and individuals for their participation in this study, and to the physicians and staff members of the Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, for their involvement in the management of the patients. Our research was supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HI14C2119).<br />Most cases of CHARGE syndrome are sporadic and autosomal dominant. CHD7 is a major causative gene of CHARGE syndrome. In this study, we screened CHD7 in two Turkish patients demonstrating symptoms of CHARGE syndrome such as coloboma, heart defect, choanal atresia, retarded growth, genital abnomalities and ear anomalies. Two mutations of CHD7 were identified including a novel splice-site mutation (c.2443-2A>G) and a previously known frameshift mutation (c.2504_2508delATCTT). We performed exon trapping analysis to determine the effect of the c.2443-2A>G mutation at the transcriptional level, and found that it caused a complete skip of exon 7 and splicing at a cryptic splice acceptor site. Our current study is the second study demonstrating an exon 7 deficit in CHD7. Results of previous studies suggest that the c.2443-2A>G mutation affects the formation of nasal tissues and the neural retina during early development, resulting in choanal atresia and coloboma, respectively. The findings of the present study will improve our understanding of the genetic causes of CHARGE syndrome.<br />Korea Health Technology R&D Project through Korea Health Industry Development Institute (KHIDI) - Ministry of Health & Welfare, Republic of Korea [HI14C2119]
- Subjects :
- 0301 basic medicine
Adult
Male
education
Turkish
DNA Mutational Analysis
Molecular Sequence Data
Choanal atresia
Biology
Transfection
Frameshift mutation
CHD7
03 medical and health sciences
Exon
CHARGE syndrome
Exon trapping
otorhinolaryngologic diseases
Genetics
medicine
Humans
Amino Acid Sequence
Frameshift Mutation
health care economics and organizations
Coloboma
Splice site mutation
Base Sequence
DNA Helicases
Infant, Newborn
Infant
General Medicine
Exons
medicine.disease
Pedigree
DNA-Binding Proteins
030104 developmental biology
Phenotype
Child, Preschool
Mutation (genetic algorithm)
Mutation
Female
Splice-Site Mutation
RNA Splice Sites
CHARGE Syndrome
HeLa Cells
Subjects
Details
- ISSN :
- 18790038
- Volume :
- 576
- Issue :
- 2 Pt 2
- Database :
- OpenAIRE
- Journal :
- Gene
- Accession number :
- edsair.doi.dedup.....01209b9079fb73a1e7df26e0805c4bd0