ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Integrative gene co-expression network analysis reveals protein-coding and LncRNA genes associated with Alzheimer's disease pathology.Scientific reports · 2025Article
- Premature ovarian insufficiency.Nature reviews. Disease primers · 2024Review
- Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.JCI insight · 2024Article
- Navigating the landscape of mitochondrial-ER communication in health and disease.Frontiers in molecular biosciences · 2024Review
- Regulators of mitonuclear balance link mitochondrial metabolism to mtDNA expression.Nature cell biology · 2023Article
- Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.Acta neurologica Belgica · 2023Article
- Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis.Molecular pharmacology · 2023Article
- Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone DeficiencyJournal of clinical research in pediatric endocrinology · 2023Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.Journal of neuromuscular diseases · 2023Review
- Cystinuria: An Overview of Diagnosis and Medical Management.Turkish archives of pediatrics · 2022Article
- Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.iScience · 2021Article
- Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.Journal of clinical medicine · 2020Article
- Identification of potential causal variants for premature ovarian failure by whole exome sequencing.BMC medical genomics · 2020Article
- Article
- Prolyl Endopeptidase-Like Facilitates the α-Synuclein Aggregation Seeding, and This Effect Is Reverted by Serine Peptidase Inhibitor PMSF.Biomolecules · 2020Article
- First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.Molecular genetics & genomic medicine · 2020Article
- PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.Frontiers in genetics · 2020Article
- A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement.Frontiers in pediatrics · 2019Article
- First cardiac manifestation of hypotonia-cystinuria syndrome.Metabolic brain disease · 2018Article
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Authors and funding
17 authors at 10 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis. Therefore, we developed a PREPL blood assay and further delineated the phenotype.MethodsClinical features of new subjects with PREPL deficiency were recorded. The presence of PREPL in lymphocytes and its reactivity with an activity-based probe were evaluated by western blot.ResultsFive subjects with isolated PREPL deficiency, three with hypotonia-cystinuria syndrome, and two with atypical hypotonia-cystinuria syndrome had nine novel alleles. Their IQs ranged from 64 to 112. Adult neuromuscular signs included ptosis, nasal dysarthria, facial weakness, and variable proximal and neck flexor weakness. Autonomic features are prevalent. PREPL protein and reactivity were absent in lymphocytes from subjects with PREPL deficiency, but normal in the clinically similar Prader-Willi syndrome.ConclusionPREPL deficiency causes neuromuscular, autonomic, cognitive, endocrine, and dysmorphic clinical features. PREPL is not deficient in Prader-Willi syndrome. The novel blood test should facilitate the confirmation of PREPL deficiency.
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