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
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Seizures
/
Thorax
/
Prevalence
/
Germ-Line Mutation
/
Databases, Genetic
/
Megalencephaly
/
Problem Behavior
/
Hair
/
Hypertelorism
/
Intellectual Disability
Type of study:
Prevalence study
Limits:
Humans
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2019
Type:
Article
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