KEGG   VARIANT: 5424v1
Entry
5424v1                      Variant                                
Name
POLD1 mutation
Type
Loss of function
Gene
POLD1  DNA polymerase delta 1, catalytic subunit [KO:K02327]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 174761
Network
nt06503  Mismatch repair
nt06504  Base excision repair
nt06506  Double-strand break repair
nt06509  DNA replication
Disease
H01623  MDPL syndrome
H02568  Polymerase proofreading-associated polyposis
Reference
  Authors
Okada A, Kohmoto T, Naruto T, Yokota I, Kotani Y, Shimada A, Miyamoto Y, Takahashi R, Goji A, Masuda K, Kagami S, Imoto I
  Title
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection.
  Journal
Hum Genome Var 4:17031 (2017)
DOI:10.1038/hgv.2017.31
Reference
  Authors
Murdocca M, Spitalieri P, De Masi C, Udroiu I, Marinaccio J, Sanchez M, Talarico RV, Fiorillo C, D'Adamo M, Sbraccia P, D'Apice MR, Novelli G, Sgura A, Sangiuolo F
  Title
Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity.
  Journal
Aging (Albany NY) 13:4926-4945 (2021)
DOI:10.18632/aging.202680
Reference
  Authors
Valle L, Hernandez-Illan E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Segui N, Vargas G, Guarinos C, Juarez M, Sanjuan X, Iglesias S, Alenda C, Egoavil C, Segura A, Juan MJ, Rodriguez-Soler M, Brunet J, Gonzalez S, Jover R, Lazaro C, Capella G, Pineda M, Soto JL, Blanco I
  Title
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
  Journal
Hum Mol Genet 23:3506-12 (2014)
DOI:10.1093/hmg/ddu058
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