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

Cavole, Thiago Rodrigues; Perrone, Eduardo; Castro, Felipe S. C. Lucena de; Pérez, Ana B.; Waitzberg, Ângela Flávia Logullo; Cernach, Mirlene Cecília Soares Pinho

doi:10.1002/ajmg.a.61559

Cited by 5 publications

(3 citation statements)

References 18 publications

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“…13 Following these recent discoveries, some cases have already been described with the genetic study and the identification of the mutation involved. 10,16 Regarding genetic diagnosis, the initial chromosomal evaluation should be followed by the whole exome sequencing analysis, as verified in the case presented.…”

Section: Discussionmentioning

confidence: 82%

Neu Laxova Syndrome—A Terrifying Disease in Two Siblings With a Novel Variant in PHGDH Gene

Gonçalves,

Andrade,

Silva

et al. 2023

Journal of Neonatology

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Introduction Neu-Laxova Syndrome (NLS) is a rare, autosomal, and recessively inherited disease characterized by severe congenital malformations, leading to prenatal or early postnatal mortality. The hallmark clinical features of this syndrome are severe intrauterine growth restriction, central nervous system abnormalities, restrictive dermopathy, and characteristic facial dysmorphia. There is no cure or treatment for this syndrome and the termination of the pregnancy is the suggested approach. Case description Here, we report a new case of 2 siblings with NLS, diagnosed in utero by ultrasonography and genetic examination. Two variants in heterozygosity in the phosphoglycerate dehydrogenase gene were discovered, including a previously uncharacterized variant (c.487C>T p. [Arg163Trp]). Comments Despite all the advances in prenatal diagnosis, NLS remains undiagnosed in many pregnancies. Early and sequential US examinations should be performed in high-risk pregnant women, to establish an early diagnosis.

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Section: Discussionmentioning

confidence: 82%

Neu Laxova Syndrome—A Terrifying Disease in Two Siblings With a Novel Variant in PHGDH Gene

Gonçalves,

Andrade,

Silva

et al. 2023

Journal of Neonatology

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“…The phenotype ranges from nonspecific developmental delay (Tabatabaie et al, 2011) to the severe lethal disease known as Neu–Laxova syndrome (NLS; MIM# 256520). Following the first descriptions by Neu and Laxova in 1971 and 1972, respectively (Laxova, Ohara, & Timothy, 1972; Neu, Kajii, Gardner, & Nagyfy, 1971), fewer than 100 cases of NLS have been reported to date (Acuna‐Hidalgo et al, 2014; Bourque et al, 2019; Cavole et al, 2020; Coto‐Puckett et al, 2010; El‐Hattab et al, 2016; Manning, Cunniff, Colby, El‐Sayed, & Hoyme, 2004; Mattos et al, 2015; Ni et al, 2019; Shaheen et al, 2014). The clinical hallmarks of this disorder are severe intrauterine growth restriction (IUGR), microcephaly, cutaneous abnormalities, and distinctive craniofacial features including sloping forehead, ocular hypertelorism, prominent eyes, ectropion, flat nose, round gaping mouth, micrognathia, short neck, and low‐set malformed ears.…”

Section: Introductionmentioning

confidence: 98%

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Abdelfattah

Kariminejad²,

Kahlert

et al. 2020

Human Mutation

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Serine biosynthesis disorders comprise a spectrum of very rare autosomal recessive inborn errors of metabolism with wide phenotypic variability. Neu–Laxova syndrome represents the most severe expression and is characterized by multiple congenital anomalies and pre‐ or perinatal lethality. Here, we present the mutation spectrum and a detailed phenotypic analysis in 15 unrelated families with severe types of serine biosynthesis disorders. We identified likely disease‐causing variants in the PHGDH and PSAT1 genes, several of which have not been reported previously. Phenotype analysis and a comprehensive review of the literature corroborates the evidence that serine biosynthesis disorders represent a continuum with varying degrees of phenotypic expression and suggest that even gradual differences at the severe end of the spectrum may be correlated with particular genotypes. We postulate that the individual residual enzyme activity of mutant proteins is the major determinant of the phenotypic variability, but further functional studies are needed to explore effects at the enzyme protein level.

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“…PHGDH gene mutations are associated with two kinds of disease phenotypes: classical PHGDH deficiency (OMIM: 601815) and Neu–Laxova syndrome (NLS, OMIM: 256520). Since first reported by Jaeken et al (1996), a total of 43 patients with the PHGDH gene variants were identified in 23 articles (Abdelfattah et al, 2020; Acuna‐Hidalgo et al, 2014; Benke et al, 2017; Brassier et al, 2016; Cavole et al, 2020; de Koning et al, 1998; el‐Hattab et al, 2016; Glinton et al, 2018; Häusler et al, 2001; Jaeken et al, 1996; Klomp et al, 2000; Kraoua et al, 2013; Mattos et al, 2015; Méneret et al, 2012; Ni et al, 2019; Pind et al, 2002; Pineda et al, 2000; Poli et al, 2017; Shaheen et al, 2014; Tabatabaie et al, 2009, 2011; Takeichi et al, 2018; Tao & Lu, 2021). An overview of clinical characteristics in patients who were reported with clear genetic etiology of PHGDH gene mutations is summarized in Data S1.…”

Section: Introductionmentioning

confidence: 99%

Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review

Chen

et al. 2022

Intl J of Devlp Neuroscience

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Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare autosomal recessive genetic disease of serine biosynthesis. Its typical features are congenital microcephaly, epileptic seizures, and psychomotor developmental delay. Here, we reported the first Chinese familial cases with genetically confirmed PHGDH deficiency and reviewed several previous reports. Two siblings in this family presented with microcephaly, psychomotor retardation, and epilepsy in early juvenile. Brain magnetic resonance imaging (MRI) showed only a slight change of enlarged ventricle. Biochemical investigations revealed low serum serine and glycine concentrations. The whole‐exome sequencing (WES) results identified a missense variant in the PHGDH gene (NM_006623.4: exon11: c.1211T>A, p. Val404Asp). Although two patients in this Chinese family carried the same pathogenic mutation in the PHGDH, their symptoms and responses to treatment were not exactly the same. We found a novel variant in the PHGDH gene and expanded the genotypic and phenotypic spectrum of serine biosynthesis disorders.

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

Cited by 5 publications

References 18 publications

Neu Laxova Syndrome—A Terrifying Disease in Two Siblings With a Novel Variant in PHGDH Gene

Neu Laxova Syndrome—A Terrifying Disease in Two Siblings With a Novel Variant in PHGDH Gene

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review

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