mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1

• DOI: 10.3760/cma.j.issn.1003-9406.2017.02.013
• Publication Date: 2017-04-10
• Authors: Biao Zhang; Yan-An Wu; Jia-Ying Zheng; Dan-Dan Guo; Xinxin Lu; Xiumin Zhang
• Keywords: 0301 basic medicine; Adult; Male; 0303 health sciences; Respiratory Distress Syndrome, Newborn; Base Sequence; DNA Mutational Analysis; Molecular Sequence Data; Infant; DNA-Binding Proteins; Muscular Atrophy, Spinal; 03 medical and health sciences; Pregnancy; Child, Preschool; Prenatal Diagnosis; Humans; Female; Transcription Factors

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).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.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.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.