Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 44-47, 2016.
Article
in Zh
| WPRIM
| ID: wpr-247739
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To determine the disease-causing mutation in a newborn with hereditary spherocytosis.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Next-generation sequencing was used to analyze the related genes. Suspected pathogenic mutation was verified with polymerase chain reaction and Sanger sequencing.</p><p><b>RESULTS</b>An insertional mutation g.834_833insC was identified in the coding region of ankyrin-1 (ANK1) gene, which has caused a frame shift, resulting premature termination of protein translation.</p><p><b>CONCLUSION</b>The hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.</p>
Full text:
1
Database:
WPRIM
Main subject:
Spherocytosis, Hereditary
/
Molecular Sequence Data
/
Base Sequence
/
Amino Acid Sequence
/
Ankyrins
/
Diagnosis
/
Genetics
/
Infant, Newborn, Diseases
/
Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Newborn
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Document type:
Article