Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report

Am J Med Genet A. 2020 Jun;182(6):1473-1476. doi: 10.1002/ajmg.a.61559. Epub 2020 Mar 20.

Abstract

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.

Keywords: PHGDH; PSAT1; PSP; Neu-Laxova; serine.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / mortality
  • Abnormalities, Multiple / pathology
  • Brain Diseases / genetics*
  • Brain Diseases / mortality
  • Brain Diseases / pathology
  • Brazil / epidemiology
  • Congenital Abnormalities / genetics*
  • Congenital Abnormalities / mortality
  • Congenital Abnormalities / pathology
  • Consanguinity
  • Female
  • Fetal Growth Retardation / genetics*
  • Fetal Growth Retardation / mortality
  • Fetal Growth Retardation / pathology
  • Genes, Lethal / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Ichthyosis / genetics*
  • Ichthyosis / mortality
  • Ichthyosis / pathology
  • Limb Deformities, Congenital / genetics*
  • Limb Deformities, Congenital / mortality
  • Limb Deformities, Congenital / pathology
  • Microcephaly / genetics*
  • Microcephaly / mortality
  • Microcephaly / pathology
  • Mutation, Missense / genetics
  • Phosphoglycerate Dehydrogenase / genetics*
  • Pregnancy
  • Stillbirth / epidemiology
  • Stillbirth / genetics*

Substances

  • Phosphoglycerate Dehydrogenase

Supplementary concepts

  • Neu Laxova syndrome