Journal article

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Fatima Abdelfattah, Ariana Kariminejad, AnneKarin Kahlert, Patrick J Morrison, Evren Gumus, Katherine D Mathews, Benjamin W Darbro, David J Amor, Maie Walsh, Yves Sznajer, Luisa Weiss, Sabine Weidensee, David Chitayat, Patrick Shannon, Eva Bermejo-Sanchez, Isolina Riano-Galan, Ian Hayes, Gemma Poke, Caroline Rooryck, Perrine Pennamen Show all

Human Mutation | WILEY | Published : 2020


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 repres..

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Awarded by Bundesministerium fur Bildung und Forschung

Funding Acknowledgements

Fundacion 1000 sobre Defectos Congenitos, Spain; Institute of Health Carlos III: Convenio ISCIII-ASEREMAC; Bundesministerium fur Bildung und Forschung, Grant/Award Numbers: GeNeRARe, FKZ: 01GM1902A