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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F14%3A10292818%21RIV15-MSM-11130___
rdf:type
n7:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1038/ng.2829
dcterms:description
Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism. Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism.
dcterms:title
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
skos:prefLabel
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
skos:notation
RIV/00216208:11130/14:10292818!RIV15-MSM-11130___
n3:aktivita
n18:I
n3:aktivity
I
n3:cisloPeriodika
1
n3:dodaniDat
n6:2015
n3:domaciTvurceVysledku
n14:1038745
n3:druhVysledku
n13:J
n3:duvernostUdaju
n11:S
n3:entitaPredkladatele
n17:predkladatel
n3:idSjednocenehoVysledku
17888
n3:idVysledku
RIV/00216208:11130/14:10292818
n3:jazykVysledku
n9:eng
n3:klicovaSlova
inhibition; purification; anomalies; biosynthesis; dysplasia; expression; phosphatidylethanolamine; cutis laxa; hyperostotic dwarfism; hamster ovary cells
n3:klicoveSlovo
n5:purification n5:hamster%20ovary%20cells n5:expression n5:inhibition n5:dysplasia n5:phosphatidylethanolamine n5:biosynthesis n5:hyperostotic%20dwarfism n5:cutis%20laxa n5:anomalies
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[61011B274C4D]
n3:nazevZdroje
Nature Genetics
n3:obor
n4:EB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
21
n3:rokUplatneniVysledku
n6:2014
n3:svazekPeriodika
46
n3:tvurceVysledku
Sa, Joaquim Beales, Philip L. Wattanasirichaigoon, Duangrurdee Ishida, Miho Scott, Richard Tasseva, Guergana Sousa, Sergio B. Chanudet, Estelle Vance, Jean E. Barnicoat, Angela Saraiva, Jorge M. Simandlová, Martina Jenkins, Dagan Stanier, Philip Moore, Gudrun E. Ryten, Mina Anderson, Glenn Van Maldergem, Lionel Calder, Alistair Chrzanowska, Krystyna Docker, James
n3:wos
000329113500016
s:issn
1061-4036
s:numberOfPages
7
n16:doi
10.1038/ng.2829
n12:organizacniJednotka
11130