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.
References
Dec 31, 2005·American Journal of Human Genetics·Jaak JaekenGert Matthijs
Jun 21, 2007·European Journal of Human Genetics : EJHG·Kevin MartensJohn W M Creemers
Jan 13, 2011·CNS & Neurological Disorders Drug Targets·Kurt BoonenJohn W M Creemers
Apr 14, 2011·BMC Genomics·Alex S NordTom Walsh
Jul 7, 2012·European Journal of Medical Genetics·Thomas EggermannRegina Ensenauer
Jul 17, 2012·Molecular Genetics and Metabolism·Luc RégalJohn Creemers
Oct 9, 2012·American Journal of Human Genetics·Menachem FromerShaun M Purcell
Jun 25, 2013·American Journal of Medical Genetics. Part a·Deborah BartholdiAnita Rauch
Mar 13, 2014·Neurology·Luc RégalAndrew G Engel
Mar 5, 2015·Journal of Inherited Metabolic Disease·Saskia B WortmannRichard J Rodenburg
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Mar 21, 2015·Lancet Neurology·Andrew G EngelSteven M Sine
Mar 13, 2016·Biochimica Et Biophysica Acta·Andrea LegatiMassimo Zeviani
Dec 9, 2016·Journal of Human Genetics·Xénia LatypovaNoriko Miyake
Jul 21, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Luc RégalJohn W M Creemers
Citations
Jan 28, 2020·Molecular Genetics & Genomic Medicine·Ping ZhangHuijun Wang
Mar 29, 2020·Frontiers in Genetics·Qi YangXin Fan
Jul 28, 2020·Genes·Olga ShchaginaAleksander Poliakov
Nov 26, 2020·Journal of Clinical Medicine·Min-Jee KimBeom Hee Lee