Prenatal diagnosis and genetic etiology analysis of a fetus with nemaline myopathy
10.3760/cma.j.cn113903-20210928-00827
- VernacularTitle:杆状体肌病胎儿的产前诊断及遗传学分析1例
- Author:
Xinying CHEN
1
;
Shuhong ZENG
;
Yuying JIANG
;
Yuanbai WANG
;
Jianlong ZHUANG
Author Information
1. 福建省泉州市妇幼保健院 儿童医院产前诊断中心，泉州 362000
- Keywords:
Myopathies, nemaline;
Muscle proteins;
Prenatal diagnosis;
Whole exome sequencing;
Polymorphism, single nucleotide
- From:
Chinese Journal of Perinatal Medicine
2022;25(3):227-230
- CountryChina
- Language:Chinese
-
Abstract:
We reported a fetus with limb abnormalities and abnormal ultrasound soft markers diagnosed with nemaline myopathy. A pregnant woman (G1P0) underwent amniocentesis at 18 +2 gestational weeks due to thickened nuchal translucency suggested by ultrasound at 13 +5 gestational weeks. Karyotyping and single nucleotide polymorphism array of the amniotic fluid cells showed no fetal abnormalities. However, ultrasonographic reexaminations at 23, 28, and 28 +1 weeks indicated limb abnormalities and thickened nuchal fold, and the pregnant woman chose to terminate the pregnancy at 29 +2 gestational weeks. Whole exome sequencing showed compound heterozygous mutations of c.602G>A (p.W201*) and c.1516A>C (p.T506P) in the KLHL40 gene inherited from the mother and the father, respectively, resulting in nemaline myopathy type 8.
