KEGG   DISEASE: Heyn-Sproul-Jackson syndrome
Entry
H02668                      Disease                                
Name
Heyn-Sproul-Jackson syndrome
Description
Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. It has been reported that gain-of-function mutations in DNMT3A cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02668  Heyn-Sproul-Jackson syndrome
Gene
DNMT3A [HSA:1788] [KO:K17398]
Other DBs
ICD-11: LD20.2
OMIM: 615879
Reference
PMID:30478443
  Authors
Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibanez L, Robertson SP, Sebastiani G, Rappsilber J, Allshire RC, Reijns MAM, Dauber A, Sproul D, Jackson AP
  Title
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
  Journal
Nat Genet 51:96-105 (2019)
DOI:10.1038/s41588-018-0274-x
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