{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T21:53:20Z","timestamp":1777240400592,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,25]],"date-time":"2015-04-25T00:00:00Z","timestamp":1429920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004837","name":"Spanish Ministry of Science and Innovation","doi-asserted-by":"crossref","award":["SAF2013-43365-R"],"award-info":[{"award-number":["SAF2013-43365-R"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The CIBERER Program of Research on Pediatric diseases (ACCI 2012)"},{"name":"The Brazilian National Council for Research and Development (CNPq)"},{"name":"Hospital de Cl\u00ednicas de Porto Alegre (FIPE-HCPA)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>In some cases Neu\u2010Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (<jats:italic>PHGDH<\/jats:italic>) gene. We describe the prenatal and postnatal findings in a fetus with one of the most severe NLS phenotypes described so far, caused by a homozygous nonsense mutation of <jats:italic>PHGDH<\/jats:italic>. Serial ultrasound (US) and pre\u2010 and postnatal magnetic resonance imaging (MRI) evaluations were performed. Prenatally, serial US evaluations suggested symmetric growth restriction, microcephaly, hypoplasia of the cerebellar vermis, micrognathia, hydrops, shortened limbs, arthrogryposis, and talipes equinovarus. The prenatal MRI confirmed these findings prompting a diagnosis of NLS. After birth, radiological imaging did not detect any gross bone abnormalities. DNA was extracted from fetal and parental peripheral blood, all coding exons of <jats:italic>PHGDH<\/jats:italic> were PCR\u2010amplified and subjected to Sanger sequencing. Sequencing of <jats:italic>PHGDH<\/jats:italic> identified a homozygous premature stop codon mutation (c.1297C&gt;T; p.Gln433*) in fetal DNA, both parents (first\u2010cousins) being heterozygotes. Based on previous associations of mutations in this gene with a milder NLS phenotype, as well as cases of serine deficiency, these observations lend further support to a genotype\u2010phenotype correlation between the degree of PHGDH inactivation and disease severity. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36930","type":"journal-article","created":{"date-parts":[[2015,4,25]],"date-time":"2015-04-25T08:29:01Z","timestamp":1429950541000},"page":"1323-1329","source":"Crossref","is-referenced-by-count":25,"title":["Identification of a premature stop codon mutation in the <i>PHGDH<\/i> gene in severe Neu\u2010Laxova syndrome\u2014evidence for phenotypic variability"],"prefix":"10.1002","volume":"167","author":[{"given":"Eduardo P.","family":"Mattos","sequence":"first","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil"},{"name":"Department of Genetics Federal University of Rio Grande do Sul Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 Anjos da","family":"Silva","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil"},{"name":"Department of Genetics Federal University of Rio Grande do Sul Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Ant\u00f4nio A","family":"Magalh\u00e3es","sequence":"additional","affiliation":[{"name":"Fetal Medicine Group Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil"},{"name":"Internal Medicine Department Federal University of Rio Grande do Sul Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00falio C\u00e9sar L.","family":"Leite","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Leistner\u2010Segal","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rejane","family":"Gus\u2010Kessler","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliano Adams","family":"Perez","sequence":"additional","affiliation":[{"name":"Radiology Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo M.","family":"Vedolin","sequence":"additional","affiliation":[{"name":"Radiology Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil"},{"name":"Internal Medicine Department Federal University of Rio Grande do Sul Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albertina","family":"Torreblanca\u2010Zanca","sequence":"additional","affiliation":[{"name":"INGEMM Instituto de Gen\u00e9tica M\u00e9dica Y Molecular Hospital Universitario La Paz Madrid Spain"},{"name":"Instituto de Investigaciones Biom\u00e9dicas Consejo Superior de Investigaciones Cient\u00edficas\u2010Universidad Aut\u00f3noma de Madrid Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"INGEMM Instituto de Gen\u00e9tica M\u00e9dica Y Molecular Hospital Universitario La Paz Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor L.","family":"Ruiz\u2010Perez","sequence":"additional","affiliation":[{"name":"Instituto de Investigaciones Biom\u00e9dicas Consejo Superior de Investigaciones Cient\u00edficas\u2010Universidad Aut\u00f3noma de Madrid Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa V.","family":"Sanseverino","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Rio Grande do Sul 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