The second point mutation in PREPL: a case report and literature review
Sebastian Silva1, Noriko Miyake2, Carolina Tapia3
1Servicio de Pediatría, Hospital de Puerto Montt, 5507798, Puerto Montt, Chile.
Journal of Human Genetics
|February 28, 2018
Summary
Prolyl endopeptidase-like (PREPL) deficiency, a rare genetic disorder, is linked to a novel homozygous mutation in the PREPL gene. This finding expands our understanding of congenital myasthenic syndromes.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Prolyl endopeptidase-like (PREPL) deficiency is an autosomal recessive congenital myasthenic syndrome.
- It presents with neonatal hypotonia, feeding issues, and neuromuscular symptoms, progressing to hyperphagia and obesity.
- Associated symptoms include growth deficits, hormonal deficiencies, and cognitive impairments.
Observation:
- A female patient presented with clinical features consistent with PREPL deficiency.
- Genetic analysis revealed a novel homozygous frameshift mutation (c.342delA:p.Val115Leufs*39) in the PREPL gene.
Findings:
- This represents the first reported homozygous point mutation in PREPL in humans.
- The identified mutation expands the spectrum of known PREPL gene alterations.
Implications:
- This discovery enhances the diagnostic capabilities for PREPL deficiency.
- Further research into PREPL function may reveal new therapeutic targets for congenital myasthenic syndromes.
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