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  Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1

Piard, J., Lespinasse, J., Vlckova, M., Mensah, M., Lurian, S., Simandlova, M., et al. (2018). Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics Part A, 176(3), 668-675. doi:10.1002/ajmg.a.38604.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0003-5A16-0 Version Permalink: http://hdl.handle.net/21.11116/0000-0003-5A17-F
Genre: Journal Article
Alternative Title : American Journal of Medical Genetics Part A

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© 2018 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

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 Creators:
Piard, J., Author
Lespinasse, J., Author
Vlckova, M., Author
Mensah, M., Author
Lurian, S., Author
Simandlova, M., Author
Malikova, M., Author
Bartsch, O., Author
Rossi, M., Author
Lenoir, M., Author
Nugues, F., Author
Mundlos, S.1, 2, Author              
Kornak, U.1, 2, Author              
Stanier, P., Author
Sousa, S., Author
Van Maldergem, L., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany, ou_persistent22              

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Free keywords: Lenz-Majewski syndrome; PTDSS1; cutis laxa; hyperostotic skeletal dysplasia
 Abstract: The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. This disorder called Lenz-Majewski syndrome (LMS) is associated with gain of function mutations in PTDSS1, encoding an enzyme involved in phospholipid biosynthesis. This report illustrates that LMS is an unequivocal cutis laxa syndrome and expands the clinical and molecular spectrum of this group of disorders. In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes. Further studies are needed to understand the link between PTDSS1 and extra cellular matrix assembly.

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Language(s): eng - English
 Dates: 2017-12-162018-01-172018-03
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1002/ajmg.a.38604
 Degree: -

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Title: American Journal of Medical Genetics Part A
Source Genre: Journal
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Publ. Info: Hoboken, N.J. : Wiley-Liss
Pages: 8 Volume / Issue: 176 (3) Sequence Number: - Start / End Page: 668 - 675 Identifier: ISSN: 1552-4825
CoNE: https://pure.mpg.de/cone/journals/resource/954925476465