Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 213-215, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335153
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation of immunoglobulin μ -binding protein 2 (IGHMBP2) gene in a two-year-old patient with spinal muscular atrophy with respiratory distress type 1 (SMARD1).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood sample from the patient and her parents, as well as cord blood sample from the fetus. Potential mutations of the coding region of the IGHMBP2 gene was detected with PCR and Sanger sequencing.</p><p><b>RESULTS</b>A heterozygous missense mutation c.1060G>A and a frameshift mutation c.2356delG was detected in the patient. The mutations were respectively inherited from her father and mother. Neither mutation was found in DNA derived from the cord blood sample.</p><p><b>CONCLUSION</b>The missense mutation c.1060G>A and frameshift mutation c.2356delG were probably causative for the disease. Analysis of the IGHMBP2 gene has provided an important clue for the etiology and prenatal diagnosis of SMARD1.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Respiratory Distress Syndrome, Newborn
/
Transcription Factors
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Muscular Atrophy, Spinal
/
Base Sequence
/
DNA-Binding Proteins
/
Genetics
Type of study:
Diagnostic study
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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