A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

ABSTRACT:

Background

Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth.

Methods

An affected dizygotic twin pair from a non-consanguineous Chinese family presented with severe asphyxia, lethargy and no response to stimuli. The dysmorphic features included prominent nasal bridge, telecanthus, excessive hip abduction, limb edema, absent palmar and sole creases, acromelia, bilateral clubfoot, appendicular hypertonia and cryptorchidism. Both infants died in the first week of life. Whole-exome sequencing was used to identify the causative gene.

Results

Whole-exome sequencing identified a recurrent missense variant c.1516A>C and a

SUBMITTER: Yi S 

PROVIDER: S-EPMC8222828 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature