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

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 fe...

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Veröffentlicht in:	American journal of medical genetics. Part A 2020-06, Vol.182 (6), p.1473-1476
Hauptverfasser:	Cavole, Thiago R., Perrone, Eduardo, Lucena de Castro, Felipe S. C., Alvarez Perez, Ana B., Waitzberg, Angela Flávia L., Cernach, Mirlene C. S. P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - mortality Abnormalities, Multiple - pathology Brain Diseases - genetics Brain Diseases - mortality Brain Diseases - pathology Brazil - epidemiology Case reports 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 Neu–Laxova PHGDH Phosphoglycerate Dehydrogenase - genetics Pregnancy PSAT1 PSP Psp gene Serine Stillbirth - epidemiology Stillbirth - genetics
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Beschreibung
Zusammenfassung:	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.
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.61559