Lenz-Majewski syndrome

Definition:

Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous and distal-limb anomalies. Mutations in the PTDSS1 gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, have been described as causative in LMS patients. Such mutations render PSS1 insensitive to feedback inhibition by PS levels.

References:

[1]. Mira Sohn, et al. Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4314-9. [Content Brief]

[2]. Parag M Tamhankar, et al. Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. Eur J Med Genet. 2015 Aug;58(8):392-9. [Content Brief]

[3]. R L Braham, et al. Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case. Oral Surg Oral Med Oral Pathol. 1969 Jan;27(1):20-6. [Content Brief]

[4]. Sérgio B Sousa, et al. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet. 2014 Jan;46(1):70-6. [Content Brief]

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