机构：[1]Department of Pediatrics, The First People’s Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China内科片儿科云南省第一人民医院
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive hereditary disease. Immunoglobulin mu-binding protein 2 (IGHMBP2) gene mutations are the main cause of SMARD1. Case presentation: Here we describe a female infant with SMARD1 carrying heterozygous mutations in IGHMBP2 genes, c.1334A > C(p.His445Pro) and c.1666C > G(p.His556Asp), which were inherited from both parents. Clinical presentations included frequent respiratory infections, respiratory failure, distal limb muscle weakness, and fat pad found at the distal toe. Conclusions: c.1666C > G(p.His556Asp) is a novel site mutation in IGHMBP2. This case expanded knowledge on the genetic profile of SMARD1 and it provides a basis for genetic testing of parents and for genetic counseling to assess the risk of fetal disease.
第一作者机构：[1]Department of Pediatrics, The First People’s Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China
通讯作者：
通讯机构：[1]Department of Pediatrics, The First People’s Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China[*1]Department of Pediatrics The First People’s Hospital of Yunnan Province, Kunming, 650021, Yunnan, China
推荐引用方式(GB/T 7714)：
Zhu Jicai,Ma Minming,Chen Xiaofang,et al.Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report[J].HELIYON.2024,10(15):doi:10.1016/j.heliyon.2024.e35415.
APA：
Zhu, Jicai,Ma, Minming,Chen, Xiaofang,Xiong, Caiyun,Ju, Yan&Chunhui, Tang.(2024).Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report.HELIYON,10,(15)
MLA：
Zhu, Jicai,et al."Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report".HELIYON 10..15(2024)
