Key result
Whole-exome sequencing identified two compound heterozygous mutations in the KLHL40 gene, providing a definitive prenatal diagnosis of fetal nemaline myopathy that was confirmed by pathology.
Case Report (n=1)
No
Whole-exome sequencing is a promising method for the prenatal diagnosis of fetal nemaline myopathy, a lethal genetic muscle disorder.
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May aid prenatal NM diagnosis via WES in recurrent hydrops; leaves open broader validation in prospective series.
Wu et al. (2020) conducted a case report in Fetal nemaline myopathy (n=1). Whole-exome sequencing was evaluated on Identification of genetic etiology for fetal akinesia deformation sequence. Whole-exome sequencing identified two compound heterozygous mutations in the KLHL40 gene, providing a definitive prenatal diagnosis of fetal nemaline myopathy that was confirmed by pathology.
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