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

J. Piard, J. Lespinasse, M. Vlckova, MA. Mensah, S. Iurian, M. Simandlova, M. Malikova, O. Bartsch, M. Rossi, M. Lenoir, F. Nugues, S. Mundlos, U. Kornak, P. Stanier, SB. Sousa, L. Van Maldergem,

. 2018 ; 176 (3) : 668-675. [pub] 20180117

Jazyk angličtina Země Spojené státy americké

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem, přehledy

Perzistentní odkaz   https://www.medvik.cz/link/bmc19012907

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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$a The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. This disorder called Lenz-Majewski syndrome (LMS) is associated with gain of function mutations in PTDSS1, encoding an enzyme involved in phospholipid biosynthesis. This report illustrates that LMS is an unequivocal cutis laxa syndrome and expands the clinical and molecular spectrum of this group of disorders. In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes. Further studies are needed to understand the link between PTDSS1 and extra cellular matrix assembly.
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$a Lespinasse, James $u Service de Cytogénétique, Centre Hospitalier de Chambéry-Hôtel Dieu, Chambéry, France.
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$a Vlckova, Marketa $u Department of Biology and Medical Genetics, Motol Hospital, Charles University, Prague, Czech Republic.
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$a Mensah, Martin A $u Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
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$a Iurian, Sorin $u Faculty of Medicine, Lucian Blaga University Sibiu, Sibiu, Romania.
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$a Simandlova, Martina $u Department of Biology and Medical Genetics, Motol Hospital, Charles University, Prague, Czech Republic.
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$a Bartsch, Oliver $u Institute of Human Genetics, Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
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$a Stanier, Philip $u Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK.
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