Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1.
- VernacularTitle:一个脊髓性肌萎缩伴呼吸窘迫1型家系IGHMBP2基因的突变分析
- Author:
Biao ZHANG
1
;
Dandan GUO
;
Jiaying ZHENG
;
Xinxin LU
;
Xiumin ZHANG
;
Yan'an WU
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Base Sequence; Child, Preschool; DNA Mutational Analysis; DNA-Binding Proteins; genetics; Female; Humans; Infant; Male; Molecular Sequence Data; Muscular Atrophy, Spinal; genetics; Pregnancy; Prenatal Diagnosis; Respiratory Distress Syndrome, Newborn; genetics; Transcription Factors; genetics
- From: Chinese Journal of Medical Genetics 2017;34(2):213-215
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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).
METHODSGenomic 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.
RESULTSA 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.
CONCLUSIONThe 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.
