PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

European journal of medical genetics 2023 Nov

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Defects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and eclabion, edema, microcephaly, central nervous system abnormalities, and flexion contractures. Here we report on two unrelated fetuses with an attenuated phenotype of NLS, that initially evoked Taybi-Linder syndrome. They carry biallelic pathogenic variants in the PHGDH gene. These observations expand the phenotypic continuum of L-serine biosynthesis defects, and illustrate the phenotypic overlap between NLS and microcephalic primordial dwarfism. Copyright © 2023 Elsevier Masson SAS. All rights reserved.

Citation

Silvestre Cuinat, Chloé Quélin, Laurent Pasquier, Philippe Loget, Dominique Aussel, Sylvie Odent, Annie Laquerrière, Maia Proisy, Sylvie Mazoyer, Marion Delous, Patrick Edery, Nicolas Chatron, Gaetan Lesca, Audrey Putoux. PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect. European journal of medical genetics. 2023 Nov;66(11):104852