The second point mutation in PREPL: a case report and literature review.

Sebastian Silva, Noriko Miyake, Carolina Tapia, Naomichi Matsumoto

Journal: Journal of human genetics 2018;63(5):677-681

PMID: 29483676

Abstract

Prolyl endopeptidase-like (PREPL) deficiency (MIM# 616224) is a rare autosomal recessive inherited congenital myasthenic syndrome characterized by neonatal hypotonia, feeding problems, mild dysmorphism, and neuromuscular symptoms, followed by hyperphagia and obesity in later childhood. Some patients also exhibit growth deficits, sexual hormone deficiency, and cognitive impairments. This syndrome is caused by biallelic mutations in PREPL. To date, only one nucleotide deletion and seven small microdeletions in PREPL have been reported. Here we report a female patient with a novel homozygous frameshift mutation in PREPL (NM_006036.4, c.342delA:p.Val115Leufs*39). Her clinical features are similar to those of previously reported cases. The mutation is the first homozygous point mutation reported in humans.

Address: Servicio de Pediatría, Hospital de Puerto Montt, 5507798, Puerto Montt, Chile.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. [email protected].; Instituto de Rehabilitación Teletón, 5502446, Puerto Montt, Chile.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. [email protected].

DOI: 10.1038/s10038-018-0426-y

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MeSH Terms: Amino Acid Substitution, Biomarkers, Child, Preschool, Electromyography, Exons, Facies, Female, Genetic Association Studies, Genotype, Humans, Magnetic Resonance Imaging, Myasthenic Syndromes, Congenital, Phenotype, Point Mutation, Prolyl Oligopeptidases, Serine Endopeptidases