Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 209-212, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335154
ABSTRACT
<p><b>OBJECTIVE</b>To carry out mutation analysis for a Chinese family affected with Escobar syndrome.</p><p><b>METHODS</b>Whole exome sequencing (WES) was employed to detect potential mutation in the proband. Suspected mutations were validated by combining clinical data and result of Sanger sequencing.</p><p><b>RESULTS</b>A homozygous missense mutation c.715C>T (p.R239C) was detected in the proband and his brother who was also affected. The parents and the daughters of the proband carried the heterozygous mutation c.715C>T, while other family members did not carry the mutation.</p><p><b>CONCLUSION</b>Escobar syndrome is a rare genetic disorder. WES is able to discover genetic mutation underlying this disorder and facilitate genetic counseling and prenatal diagnosis for the affected family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Skin Abnormalities
/
Abnormalities, Multiple
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Asian People
/
Exome
/
Genetics
/
Heterozygote
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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