Autor: |
Jicai Zhu, Minming Ma, Xiaofang Chen, Caiyun Xiong, Yan Ju, Tang Chunhui |
Jazyk: |
angličtina |
Rok vydání: |
2024 |
Předmět: |
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Zdroj: |
Heliyon, Vol 10, Iss 15, Pp e35415- (2024) |
Druh dokumentu: |
article |
ISSN: |
2405-8440 |
DOI: |
10.1016/j.heliyon.2024.e35415 |
Popis: |
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. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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