ArticleAmerican journal of human genetics2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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53 citing papers in PubMed, 152 citations in OpenAlex.
- Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.JIMD reports · 2026Article
- PSAT1 inhibits mTORC1 activation by preventing Rag heterodimer formation in lung adenocarcinoma.Autophagy · 2026Article
- Clinical histopathology and pathogenesis of macular telangiectasia type 2.Progress in retinal and eye research · 2026Review
- A phosphoserine phosphatase variant present in the brain of Alzheimer's disease patients favors nuclear mistargeting.The FEBS journal · 2025Article
- The integrated stress response fine-tunes stem cell fate decisions upon serine deprivation and tissue injury.Cell metabolism · 2025Article
- PSAT1 regulated by STAT4 enhances the proliferation, invasion and migration of ovarian cancer cells via the PI3K/AKT pathway.International journal of molecular medicine · 2025Article
- Phosphoserine aminotransferase 1 promotes serine synthesis pathway and cardiac repair after myocardial infarction.Theranostics · 2025Article
- Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.Children (Basel, Switzerland) · 2024Article
- Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.Molecular genetics & genomic medicine · 2024Review
- Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.PLoS genetics · 2023Article
- Neu-Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation inJournal of pediatric genetics · 2023Article
- Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.Biomolecules · 2023Article
- Article
- Glutaminolysis and the Control of Neural Progenitors in Neocortical Development and Evolution.The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry · 2023Review
- L-serine biosynthesis in the human central nervous system: Structure and function of phosphoserine aminotransferase.Protein science : a publication of the Protein Society · 2023Article
- Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy.European heart journal · 2022Article
- Prenatal Diagnosis of Neu-Laxova Syndrome.Diagnostics (Basel, Switzerland) · 2022Review
- Serine Metabolism in Health and Disease and as a Conditionally Essential Amino Acid.Nutrients · 2022Review
- Microcephaly in Neurometabolic Diseases.Children (Basel, Switzerland) · 2022Review
- Juvenile-onsetFrontiers in genetics · 2022Article
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30 authors at 10 institutions in 7 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. Homozygous mutations in PHGDH, a gene involved in the first and limiting step in L-serine biosynthesis, were recently identified as the cause of the disease in three families. By studying a cohort of 12 unrelated families affected by NLS, we provide evidence that NLS is genetically heterogeneous and can be caused by mutations in all three genes encoding enzymes of the L-serine biosynthesis pathway. Consistent with recently reported findings, we could identify PHGDH missense mutations in three unrelated families of our cohort. Furthermore, we mapped an overlapping homozygous chromosome 9 region containing PSAT1 in four consanguineous families. This gene encodes phosphoserine aminotransferase, the enzyme for the second step in L-serine biosynthesis. We identified six families with three different missense and frameshift PSAT1 mutations fully segregating with the disease. In another family, we discovered a homozygous frameshift mutation in PSPH, the gene encoding phosphoserine phosphatase, which catalyzes the last step of L-serine biosynthesis. Interestingly, all three identified genes have been previously implicated in serine-deficiency disorders, characterized by variable neurological manifestations. Our findings expand our understanding of NLS as a disorder of the L-serine biosynthesis pathway and suggest that NLS represents the severe end of serine-deficiency disorders, demonstrating that certain complex syndromes characterized by early lethality could indeed be the extreme end of the phenotypic spectrum of already known disorders.
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