Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.
Identifieur interne : 000A98 ( Main/Exploration ); précédent : 000A97; suivant : 000A99Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.
Auteurs : Jessie Mcclelland [Australie] ; Bronwyn Burgess [Australie] ; Patricia Crock [Australie] ; Himanshu Goel [Australie]Source :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2016.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Syndrome de Sotos.
- génétique : Syndrome de Sotos.
- Adulte, Caryotypage, Faciès, Femelle, Humains, Hybridation génomique comparative, Lymphoedème, Phénotype, Retard de croissance intra-utérin, Tremblement.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Sotos Syndrome.
- genetics : Sotos Syndrome.
- Adult, Comparative Genomic Hybridization, Facies, Female, Fetal Growth Retardation, Humans, Karyotyping, Lymphedema, Phenotype, Tremor.
Abstract
Sotos syndrome is a childhood overgrowth syndrome characterized clinically by a distinctive facial gestalt, advanced bone age, childhood overgrowth, and non-progressive developmental delay; and genetically by haploinsufficiency of the Nuclear receptor binding SET Domain 1 (NSD1) gene. Generalized lymphedema has not previously been associated with Sotos syndrome. Generalized lymphedema has been associated with mutations in several genes including FLT4. This gene is involved in the regulation of VEGFR3, a key governor of lymphatic-endothelial cell development and function. We report on a 28-year-old Caucasian female with a de novo NSD1 intragenic mutation, c.5841_5848dup: p.Leu1950Serfs*22, who presented with characteristic clinical features of Sotos syndrome. Unusually this case includes atypical features of intrauterine growth retardation and post-pubertal onset of primary lymphedema. To our knowledge, no link between Sotos syndrome and generalized lymphedema has previously been described in the literature. We propose a mechanism by which disruptions in NSD1 gene may lead to generalized lymphedema. Aberrations of the mitogen-activated protein kinase (MAPK)/extracellular signal-regulated kinase (ERK)-signaling pathway has been identified in both Sotos syndrome and lymphedema. This finding extends the known phenotype of Sotos syndrome through the inclusion of lymphedema. This case also indicates that presence of low birth weight does not exclude the possibility of Sotos syndrome.
DOI: 10.1002/ajmg.a.37535
PubMed: 26738611
Affiliations:
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Generalized lymphedema has not previously been associated with Sotos syndrome. Generalized lymphedema has been associated with mutations in several genes including FLT4. This gene is involved in the regulation of VEGFR3, a key governor of lymphatic-endothelial cell development and function. We report on a 28-year-old Caucasian female with a de novo NSD1 intragenic mutation, c.5841_5848dup: p.Leu1950Serfs*22, who presented with characteristic clinical features of Sotos syndrome. Unusually this case includes atypical features of intrauterine growth retardation and post-pubertal onset of primary lymphedema. To our knowledge, no link between Sotos syndrome and generalized lymphedema has previously been described in the literature. We propose a mechanism by which disruptions in NSD1 gene may lead to generalized lymphedema. Aberrations of the mitogen-activated protein kinase (MAPK)/extracellular signal-regulated kinase (ERK)-signaling pathway has been identified in both Sotos syndrome and lymphedema. This finding extends the known phenotype of Sotos syndrome through the inclusion of lymphedema. This case also indicates that presence of low birth weight does not exclude the possibility of Sotos syndrome.</div></front></TEI><affiliations><list><country><li>Australie</li></country></list><tree><country name="Australie"><noRegion><name sortKey="Mcclelland, Jessie" sort="Mcclelland, Jessie" uniqKey="Mcclelland J" first="Jessie" last="Mcclelland">Jessie Mcclelland</name></noRegion><name sortKey="Burgess, Bronwyn" sort="Burgess, Bronwyn" uniqKey="Burgess B" first="Bronwyn" last="Burgess">Bronwyn Burgess</name><name sortKey="Crock, Patricia" sort="Crock, Patricia" uniqKey="Crock P" first="Patricia" last="Crock">Patricia Crock</name><name sortKey="Goel, Himanshu" sort="Goel, Himanshu" uniqKey="Goel H" first="Himanshu" last="Goel">Himanshu Goel</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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