Neu-Laxova syndrome (NLS) is a lethal genetic multiple congenital anomaly syndrome of unknown prevalence representing the severe spectrum of serine biosynthesis defects associated with PHGDH, PSAT1, or PSP gene mutations. The purpose of this study was to describe clinical/molecular and pathologic features of a NLS case caused by novel heterozygous missense variant in PHGDH gene identified in his consanguineous parents.
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Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
Prenat Diagn
December 2024
Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Article Synopsis
- The study aimed to better understand severe serine biosynthesis defects by examining prenatal and postnatal effects in 12 unrelated Egyptian families with suspected Neu-Laxova syndrome (NLS).
- Researchers employed fetal ultrasound, postnatal assessments, and whole exome sequencing (WES) to analyze this new cohort and reviewed existing literature for a broader context.
- Findings included novel clinical signs and the identification of several genetic variants, expanding the understanding of serine biosynthesis disorders and highlighting the importance of prenatal exome sequencing.
Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report.
Hong Kong Med J
August 2024
Department of Obstetrics and Gynaecology, United Christian Hospital, Hong Kong SAR, China.
Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.
Prenat Diagn
December 2023
INSERM UMR-1163, Institut Imagine, Université Paris Cité, Paris, France.
Neu Laxova syndrome (NLS) is a rare and lethal congenital disorder characterized by severe intra-uterine growth retardation (IUGR), ichthyosis, abnormal facial features, limb abnormalities with arthrogryposis and a wide spectrum of severe malformations of the central nervous system (CNS). NLS is due to biallelic variants in three genes previously involved in serine-deficiency disorders (PHGDH, PSAT1 and PSPH), extending the phenotypic spectrum of these disorders.
View Article and Find Full Text PDFConstructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
PLoS Genet
October 2023
Pacific Northwest Research Institute, Seattle, Washington, United States of America.
Reduced activity of the enzymes encoded by PHGDH, PSAT1, and PSPH causes a set of ultrarare, autosomal recessive diseases known as serine biosynthesis defects. These diseases present in a broad phenotypic spectrum: at the severe end is Neu-Laxova syndrome, in the intermediate range are infantile serine biosynthesis defects with severe neurological manifestations and growth deficiency, and at the mild end is childhood disease with intellectual disability. However, L-serine supplementation, especially if started early, can ameliorate and in some cases even prevent symptoms.
View Article and Find Full Text PDFPHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Eur J Med Genet
November 2023
Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Centre de Recherche en Neurosciences de Lyon, équipe GENDEV, INSERM U1028 CNRS UMR5292 UCBL1, Lyon, France. Electronic address:
Defects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and eclabion, edema, microcephaly, central nervous system abnormalities, and flexion contractures. Here we report on two unrelated fetuses with an attenuated phenotype of NLS, that initially evoked Taybi-Linder syndrome.
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