ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1617541
Clinical and Genetic Characterization of Lenz-Majewski syndrome with a PTDSS1 variant: A Case Report and Literature Review
Provisionally accepted
- 1Department of Infectious Diseases, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo Zhejiang, China
- 2Department of Public Health, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo Zhejiang, China
- 3The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children’s Hospital of Ningbo University, Ningbo, Zhejiang, China
- 4Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, The Affiliated Women and Children’s Hospital of Ningbo University, Ningbo, Zhejiang, China
- 5Department of Neurology, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo Zhejiang, China
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Lenz-Majewski syndrome (LMS) is an ultra-rare congenital disorder with progressive skeletal dysplasia, cutis laxa, and intellectual disability, typically caused by pathogenic variants in the PTDSS1 gene. We report the first molecularly confirmed case of LMS in a Chinese patient, a male infant presenting with classic features such as craniofacial dysmorphism, hyperostosis, loose skin, syndactyly, and short stature, together with mild global developmental delay and thyroid dysfunction. Whole exome sequencing (WES) identified a heterozygous c.806C>T (p. Pro269Leu) variant in the PTDSS1 gene, which was validated by Sanger sequencing and functionally assessed for pathogenicity. We further reviewed 12 previously reported cases with PTDSS1 variants and compared phenotypes, highlighting both shared and unique features. This case expands the ethnic and phenotypic spectrum of LMS and reinforces the association between the c.806C>T (p. Pro269Leu) variant and LMS. Early genetic testing facilitates recognition of atypical presentations and enables timely diagnosis and management.
Keywords: PTDSS1 gene, whole exome sequencing, Lenz-Majewski syndrome, clinical manifestations, genetic analysis
Received: 24 Apr 2025; Accepted: 14 Jul 2025.
Copyright: © 2025 Zhang, Wu, Yan, Zhang, Li and He. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Haibo Li, The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children’s Hospital of Ningbo University, Ningbo, Zhejiang, China
Yan He, Department of Neurology, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo Zhejiang, China
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