Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
Journal of Genetic Medicine
;
: 27-30, 2019.
Article
Dans Anglais
| WPRIM
| ID: wpr-764507
ABSTRACT
Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Crises épileptiques
/
Thorax
/
Prévalence
/
Mutation germinale
/
Bases de données génétiques
/
Mégalencéphalie
/
Comportement déviant
/
Poils
/
Hypertélorisme
/
Déficience intellectuelle
Type d'étude:
Étude de prévalence
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Journal of Genetic Medicine
Année:
2019
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS