ArticleAmerican journal of human genetics2014
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
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 43 papers.
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Who cites it
43 citing papers in PubMed, 121 citations in OpenAlex.
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- PRMT1 Sustains De Novo Fatty Acid Synthesis by Methylating PHGDH to Drive Chemoresistance in Triple-Negative Breast Cancer.Cancer research · 2024Article
- Neu-Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation inJournal of pediatric genetics · 2023Article
- Sources and Sinks of Serine in Nutrition, Health, and Disease.Annual review of nutrition · 2023Review
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- PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.Human genetics · 2023Article
- Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.BMC biology · 2023Article
- Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy.European heart journal · 2022Article
- Microcephaly in Neurometabolic Diseases.Children (Basel, Switzerland) · 2022Review
- Lethal variants in humans: lessons learned from a large molecular autopsy cohort.Genome medicine · 2021Article
- Hepatocyte-SpecificNutrients · 2021Article
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
- Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.Nature genetics · 2021Article
- Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.Indian journal of pediatrics · 2021Review
- 3-Phosphoglycerate dehydrogenase: a potential target for cancer treatment.Cellular oncology (Dordrecht, Netherlands) · 2021Review
- 2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome.American journal of human genetics · 2021Article
- Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.Nature metabolism · 2021Article
- LncRNA MEG8 promotes NSCLC progression by modulating the miR-15a-5p-miR-15b-5p/PSAT1 axis.Cancer cell international · 2021Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, microcephaly, a distinct facial appearance, ichthyosis, skeletal anomalies, and perinatal lethality. The pathogenesis of NLS remains unclear despite extensive clinical and pathological phenotyping of the >70 affected individuals reported to date, emphasizing the need to identify the underlying genetic etiology, which remains unknown. In order to identify the cause of NLS, we conducted a positional-mapping study combining autozygosity mapping and whole-exome sequencing in three consanguineous families affected by NLS. Surprisingly, the NLS-associated locus identified in this study was solved at the gene level to reveal mutations in PHGDH, which is known to be mutated in individuals with microcephaly and developmental delay. PHGDH encodes the first enzyme in the phosphorylated pathway of de novo serine synthesis, and complete deficiency of its mouse ortholog recapitulates many of the key features of NLS. This study shows that NLS represents the extreme end of a known inborn error of serine metabolism and highlights the power of genomic sequencing in revealing the unsuspected allelic nature of apparently distinct clinical entities.
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