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Neu-Laxova syndrome(NLS)

MedGen UID:
78537
•Concept ID:
C0265218
•
Disease or Syndrome
Synonym: NLS
SNOMED CT: NLS - Neu-Laxova syndrome (77817004); Neu-Laxova syndrome (77817004); 3-phosphoglycerate dehydrogenase deficiency neonatal form (77817004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0000179
OMIM®: 256520
OMIM® Phenotypic series: PS256520
Orphanet: ORPHA2671

Definition

Neu-Laxova syndrome is an autosomal recessive lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, central nervous system anomalies (lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears (summary by Manning et al., 2004). Genetic Heterogeneity of Neu-Laxova Syndrome NLS2 (616038) is caused by mutation in the PSAT1 gene (610936) on chromosome 9q21. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeu-Laxova syndrome
Follow this link to review classifications for Neu-Laxova syndrome in Orphanet.

Professional guidelines

PubMed

Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Xie MJ, Cromie GA, Owens K, Timour MS, Tang M, Kutz JN, El-Hattab AW, McLaughlin RN Jr, Dudley AM
PLoS Genet 2023 Oct;19(10):e1010972. Epub 2023 Oct 9 doi: 10.1371/journal.pgen.1010972. PMID: 37812589Free PMC Article

Recent clinical studies

Etiology

Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
Bourque DK, Cloutier M, Kernohan KD, Bareke E, Grynspan D, Michaud J; Care4Rare Canada Consortium, Boycott KM
Am J Med Genet A 2019 May;179(5):813-816. Epub 2019 Mar 5 doi: 10.1002/ajmg.a.61076. PMID: 30838783
Neu Laxova syndrome.
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Amino acid synthesis deficiencies.
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article
Rare manifestations of Neu-Laxova syndrome.
Badakali M, Badakali A, Dombale V
Fetal Pediatr Pathol 2012 Feb;31(1):1-5. doi: 10.3109/15513815.2011.618864. PMID: 22233503
Early ultrasound diagnosis of Neu-Laxova syndrome.
Rode ME, Mennuti MT, Giardine RM, Zackai EH, Driscoll DA
Prenat Diagn 2001 Jul;21(7):575-80. doi: 10.1002/pd.101. PMID: 11494295

Diagnosis

Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.
Bourgon N, Chen R, Grangé G, Grotto S, Molac C, Loeuillet L, Attié-Bitach T
Prenat Diagn 2023 Dec;43(13):1666-1670. Epub 2023 Nov 14 doi: 10.1002/pd.6463. PMID: 37964427
Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome.
Ni C, Cheng RH, Zhang J, Liang JY, Wei RQ, Li M, Yao ZR
Eur J Dermatol 2019 Dec 1;29(6):641-646. doi: 10.1684/ejd.2019.3673. PMID: 31903955
Neu Laxova syndrome.
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Prenatal genetic diagnosis of Neu-Laxova syndrome.
Wood AM, Mottola AT, Rhee EH, Kuller JA
J Obstet Gynaecol 2018 Apr;38(3):413-414. Epub 2017 Sep 14 doi: 10.1080/01443615.2017.1343811. PMID: 28903583
Amino acid synthesis deficiencies.
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article

Prognosis

Neu Laxova syndrome.
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Rare manifestations of Neu-Laxova syndrome.
Badakali M, Badakali A, Dombale V
Fetal Pediatr Pathol 2012 Feb;31(1):1-5. doi: 10.3109/15513815.2011.618864. PMID: 22233503
Neu-Laxova syndrome: a case report and review of the literature.
Ugras M, Kocak G, Ozcan H
J Eur Acad Dermatol Venereol 2006 Oct;20(9):1126-8. doi: 10.1111/j.1468-3083.2006.01645.x. PMID: 16987270
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE
Am J Med Genet A 2004 Mar 15;125A(3):240-9. doi: 10.1002/ajmg.a.20467. PMID: 14994231
Early ultrasound diagnosis of Neu-Laxova syndrome.
Rode ME, Mennuti MT, Giardine RM, Zackai EH, Driscoll DA
Prenat Diagn 2001 Jul;21(7):575-80. doi: 10.1002/pd.101. PMID: 11494295

Clinical prediction guides

Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Xie MJ, Cromie GA, Owens K, Timour MS, Tang M, Kutz JN, El-Hattab AW, McLaughlin RN Jr, Dudley AM
PLoS Genet 2023 Oct;19(10):e1010972. Epub 2023 Oct 9 doi: 10.1371/journal.pgen.1010972. PMID: 37812589Free PMC Article
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Cuinat S, Quélin C, Pasquier L, Loget P, Aussel D, Odent S, Laquerrière A, Proisy M, Mazoyer S, Delous M, Edery P, Chatron N, Lesca G, Putoux A
Eur J Med Genet 2023 Nov;66(11):104852. Epub 2023 Sep 25 doi: 10.1016/j.ejmg.2023.104852. PMID: 37758168
Amino acid synthesis deficiencies.
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article
Serine biosynthesis and transport defects.
El-Hattab AW
Mol Genet Metab 2016 Jul;118(3):153-159. Epub 2016 Apr 22 doi: 10.1016/j.ymgme.2016.04.010. PMID: 27161889
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
Lazjuk GI, Lurie IW, Ostrowskaja TI, Cherstvoy ED, Kirillova IA, Nedzved MK, Usoev SS
Am J Med Genet 1979;3(3):261-7. doi: 10.1002/ajmg.1320030304. PMID: 225952

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