Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10375373" target="_blank" >RIV/00216208:11130/18:10375373 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/18:10375373
Result on the web
<a href="https://doi.org/10.1002/ajmg.a.38604" target="_blank" >https://doi.org/10.1002/ajmg.a.38604</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ajmg.a.38604" target="_blank" >10.1002/ajmg.a.38604</a>
Alternative languages
Result language
angličtina
Original language name
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10600 - Biological sciences
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Medical Genetics: Part A
ISSN
1552-4825
e-ISSN
—
Volume of the periodical
176
Issue of the periodical within the volume
3
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
668-675
UT code for WoS article
000425118400015
EID of the result in the Scopus database
2-s2.0-85040670640