KEGG   DISEASE: Smith-Kingsmore syndromeHelp
Entry
H01928                      Disease                                

Name
Smith-Kingsmore syndrome;
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Description
Smith-Kingsmore syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous mutations in MTOR gene have been shown to underlie SKS. The most consistent findings in SKS are intellectual disability (ID), developmental delay, megalencephaly, and seizures. There is moderate clinical variability, ranging from patients with macrocephaly, mild ID, and no convulsions, to severe forms in patients with intractable epilepsy, megalencephaly, severe ID, and autistic spectrum disorder.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01928  Smith-Kingsmore syndrome
BRITE hierarchy
Pathway
hsa04150 mTOR signaling pathway   
Gene
MTOR [HSA:2475] [KO:K07203]
Other DBs
OMIM: 616638
Reference
  Authors
Gordo G, Tenorio J, Arias P, Santos-Simarro F, Garcia-Minaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares M, Del Pozo A, Ibanez K, Silla JC, Barroso E, Ruiz Perez VL, Martinez-Glez V, Lapunzina P
  Title
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
  Journal
Clin Genet 93:762-775 (2018)
DOI:10.1111/cge.13135
Reference
  Authors
Moosa S, Bohrer-Rabel H, Altmuller J, Beleggia F, Nurnberg P, Li Y, Yigit G, Wollnik B
  Title
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
  Journal
Am J Med Genet A 173:264-267 (2017)
DOI:10.1002/ajmg.a.37999
Reference
  Authors
Moller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmuller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S
  Title
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
  Journal
Neurol Genet 2:e118 (2016)
DOI:10.1212/NXG.0000000000000118
Reference
  Authors
Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J
  Title
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
  Journal
Am J Med Genet A 167:1659-67 (2015)
DOI:10.1002/ajmg.a.37070

» Japanese version

DBGET integrated database retrieval system