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 that presents with growth deficiency, photosensitivity with poikilodermatous skin changes, cataracts, early greying and loss of hair, and an increased incidence of cancer, including osteosarcoma and hematological malignancy. RTS is caused by mutations in RECQL4 helicase. 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
RECQL4 [HSA:9401] [KO:K10730]
Other DBs
ICD-11: LD2B
ICD-10: Q82.8
MeSH: D011038
OMIM: 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
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