Literature DB >> 26117586

Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.

Parag M Tamhankar1, Lakshmi Vasudevan2, Vandana Bansal3, Shyla R Menon2, Harshavardhan M Gawde2, Aruna D'Souza2, Shiny Babu2, Shweta Kondurkar2, Rashmi Adhia2, Dhanjit Kumar Das2.   

Abstract

Lenz-Majewski syndrome (LMS) is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies and distinct craniofacial, dental, cutaneous and distal - limb anomalies. Recently, mutations in PTDSS1 gene have been identified as causative in six unrelated individuals. We report the seventh mutation proven case of LMS and provide a concise review of all known patients till date.
Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Lenz-Majewski syndrome; PTDSS1

Mesh：

Substances：

Year:  2015        PMID： 26117586     DOI： 10.1016/j.ejmg.2015.06.002

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  5 in total

1.  Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism.

Authors:  Mira Sohn; Tamas Balla
Journal:  J Rare Dis Res Treat       Date:  2016-12-29

2.  De novo loss-of-function variant in PTDSS1 is associated with developmental delay.

Authors:  Sara Gracie; Nivedita Sengupta; Carlos Ferreira; Joshua Pemberton; Ilse Anderson; Xin Wang; Lindsay Rhodes; Kathleen Brown; Tamas Balla; Austin Larson
Journal:  Am J Med Genet A       Date:  2022-02-27       Impact factor: 2.578

3.  Construction of a Pearson- and MIC-Based Co-expression Network to Identify Potential Cancer Genes.

Authors:  Na Xu; Dan Cao; Yuan Chen; Hongyan Zhang; Yuting Li; Zheming Yuan
Journal:  Interdiscip Sci       Date:  2021-10-25       Impact factor: 2.233

4.  Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.

Authors:  Marian Seda; Emma Peskett; Charalambos Demetriou; Dale Bryant; Gudrun E Moore; Philip Stanier; Dagan Jenkins
Journal:  F1000Res       Date:  2019-03-11

Review 5.  Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Authors:  Juliette Piard; James Lespinasse; Marketa Vlckova; Martin A Mensah; Sorin Iurian; Martina Simandlova; Marcela Malikova; Oliver Bartsch; Massimiliano Rossi; Marion Lenoir; Frédérique Nugues; Stefan Mundlos; Uwe Kornak; Philip Stanier; Sérgio B Sousa; Lionel Van Maldergem
Journal:  Am J Med Genet A       Date:  2018-01-17       Impact factor: 2.802
  5 in total

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