Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

doi:10.1038/ng.2829

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Article

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Nature genetics - 1 Jan 2014

Sousa Sérgio B, Jenkins Dagan, Chanudet Estelle, Tasseva Guergana, Ishida Miho, Anderson Glenn, Docker James, Ryten Mina, Sa Joaquim, Saraiva Jorge M, Barnicoat Angela, Scott Richard, Calder Alistair, Wattanasirichaigoon Duangrurdee, Chrzanowska Krystyna, Simandlová Martina, Van Maldergem Lionel, Stanier Philip, Beales Philip L, Vance Jean E, Moore Gudrun E

Abstract excerpt

Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two...

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PMID: 24241535
DOI: 10.1038/ng.2829

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PTDSS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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