A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.

ABSTRACT:

Objective

To identify the genetic cause of complex neuropathy in two siblings from a consanguineous family.

Methods

The patients were recruited from our clinic. Muscle biopsy and whole-exome sequencing (WES) were performed. Fibroblasts cell lines from the index patient, unaffected parents, and three normal controls were used for cDNA analysis and western blot.

Results

The index patient was a 29-year-old male with clinical phenotype of syndactyly, pes cavus, swallowing difficulties, vision problem, imbalance, and muscle weakness. The sibling had similar, but milder symptoms. Nerve conduction studies and electromyography of both patients suggested sensory-motor axonal neuropathy. Muscle biopsy showed a feature of necklace fibres. WES identified a novel homozygous frames

SUBMITTER: Gang Q 

PROVIDER: S-EPMC7419361 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature