Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report
Jicai Zhu,
Minming Ma,
Xiaofang Chen,
Caiyun Xiong,
Yan Ju,
Tang Chunhui
Affiliations
Jicai Zhu
Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China
Minming Ma
Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China
Xiaofang Chen
Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China
Caiyun Xiong
Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China
Yan Ju
Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China
Tang Chunhui
Corresponding author. ng, Chief Physician, Department of Pediatrics The First People's Hospital of Yunnan Province, Kunming, 650021, Yunnan, China.; Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive hereditary disease. Immunoglobulin μ-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.
