KEGG   DISEASE: Rothmund-Thomson syndrome
Entry
H01734                      Disease                                

Name
Rothmund-Thomson syndrome
  Supergrp
Defects in RecQ helicases [DS:H00296]
Description
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies. RTS type 1 is associated with juvenile cataracts. Mutations in ANAPC1, encoding a subunit of the anaphase-promoting complex, cause RTS1. RTS type 2, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by increased cancer susceptibility. RECQL4 is shown to be important protein for DNA replication, repair, and telomere maintenance.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01734  Rothmund-Thomson syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H01734  Rothmund-Thomson syndrome
Gene
(RTS1) ANAPC1 [HSA:64682] [KO:K03348]
(RTS2) RECQL4 [HSA:9401] [KO:K10730]
Other DBs
ICD-11: LD2B
ICD-10: Q82.8
MeSH: D011038
OMIM: 618625 268400
Reference
  Authors
Mohaghegh P, Hickson ID
  Title
Premature aging in RecQ helicase-deficient human syndromes.
  Journal
Int J Biochem Cell Biol 34:1496-501 (2002)
DOI:10.1016/S1357-2725(02)00039-0
Reference
  Authors
Smeets MF, DeLuca E, Wall M, Quach JM, Chalk AM, Deans AJ, Heierhorst J, Purton LE, Izon DJ, Walkley CR
  Title
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
  Journal
J Clin Invest 124:3551-65 (2014)
DOI:10.1172/JCI75334
Reference
  Authors
Ferrarelli LK, Popuri V, Ghosh AK, Tadokoro T, Canugovi C, Hsu JK, Croteau DL, Bohr VA
  Title
The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.
  Journal
DNA Repair (Amst) 12:518-28 (2013)
DOI:10.1016/j.dnarep.2013.04.005
Reference
  Authors
Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM
  Title
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
  Journal
Am J Hum Genet 105:625-630 (2019)
DOI:10.1016/j.ajhg.2019.06.011
LinkDB

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