KEGG   DISEASE: Saul-Wilson syndrome
Entry
H03024                      Disease                                
Name
Saul-Wilson syndrome
Description
Saul-Wilson syndrome (SWILS) is a rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. It has been reported that affected individuals harbored heterozygous de novo variants in COG4, which encodes a component of the conserved oligomeric Golgi (COG) trafficking complex.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H03024  Saul-Wilson syndrome
Gene
COG4 [HSA:25839] [KO:K20291]
Other DBs
ICD-11: LD24.D
OMIM: 618150
Reference
PMID:30290151
  Authors
Ferreira CR, Xia ZJ, Clement A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sanchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Nordgren A, Hammarsjo A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH
  Title
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
  Journal
Am J Hum Genet 103:553-567 (2018)
DOI:10.1016/j.ajhg.2018.09.003
LinkDB

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