Piard, J;
Lespinasse, J;
Vlckova, M;
Mensah, MA;
Lurian, S;
Simandlova, M;
Malikova, M;
... Van Maldergem, L; + view all
(2018)
Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1.
American Journal of Medical Genetics Part A
, 176A
pp. 668-675.
10.1002/ajmg.a.38604.
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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.
| Type: | Article |
|---|---|
| Title: | Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1 |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/ajmg.a.38604 |
| Publisher version: | https://doi.org/10.1002/ajmg.a.38604 |
| Language: | English |
| Additional information: | Copyright © 2018 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | Lenz-Majewski syndrome, cutis laxa, PTDSS1, hyperostotic skeletal dysplasia |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10041367 |
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