Neonatal X-linked myotubular myopathy with a de novo mutation:A case report and literature review
10.11817/j.issn.1672-7347.2024.230450
- VernacularTitle:新发突变基因的新生儿X-连锁肌小管肌病1例并文献回顾
- Author:
Yong HU
1
;
Xi HUANG
Author Information
1. 四川大学华西第二医院儿科,成都 610041;出生缺陷与相关妇儿疾病教育部重点实验室,成都 610041
- Keywords:
X-linked myotubular myopathy;
MTM1 gene;
gene mutation;
neonate
- From:
Journal of Central South University(Medical Sciences)
2024;49(3):491-496
- CountryChina
- Language:Chinese
-
Abstract:
X-linked myotubular myopathy(XLMTM)is a rare congenital myopathy.In February 2021,a male neonate was admitted to the West China Second University Hospital,Sichuan University,with clinical manifestations of hypotonia,accompanied by distinctive facial features,and requiring continuous ventilatory support.He was born prematurely at 36+2 weeks gestation and developed respiratory distress postnatally,followed by difficulty in weaning from mechanical ventilation.Additional clinical features included hypotonia of the limbs,swallowing dysfunction,and specific facial characteristics(elongated limbs,narrow face,high-arched palate,wrist drop,empty scrotum,elongated fingers/toes).Genetic testing confirmed the diagnosis of XLMTM.Whole-exome sequencing analysis of the family revealed no mutations in the father,paternal grandfather,or paternal grandmother,while the mother had a heterozygous mutation.The pathogenic mutation was identified as MTM1 gene(OMIM:300415),chromosome position chrX-150649714,with a nucleotide change of c.868-2A>C.The patient exhibited typical facial features.Genetic testing is crucial for accurate diagnosis of XLMTM in infants presenting with abnormal muscle tone and distinctive facial features.
