Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
- Author:
Dohwan LEE
1
;
Ja Hyun JANG
;
Cha Gon LEE
Author Information
- Publication Type:Case Report
- Keywords: MTOR; Germ-line mutation; Smith-Kingsmore syndrome; Megalencephaly; Intellectual disability
- MeSH: Databases, Genetic; Germ-Line Mutation; Hair; Humans; Hypertelorism; Intellectual Disability; Megalencephaly; Prevalence; Problem Behavior; Seizures; Thorax
- From:Journal of Genetic Medicine 2019;16(1):27-30
- CountryRepublic of Korea
- Language:English
- 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.
