KEGG DISEASE: Rothmund-Thomson syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06509  DNA replication
   H01734  Rothmund-Thomson syndrome
Cellular process
  nt06512  Chromosome cohesion and segregation
   H01734  Rothmund-Thomson syndrome

Pathway

hsa04110 Cell cycle

Network

nt06509 DNA replication
nt06512 Chromosome cohesion and segregation

Gene

(RTS1) ANAPC1 [HSA:64682] [KO:K03348]
(RTS2) RECQL4 [HSA:9401] [KO:K10730]
(RTS3) CRIPT [HSA:9419] [KO:K24826]
(RTS4) DNA2 [HSA:1763] [KO:K10742]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

618625 268400 615789 620819

Reference

Authors

Wang LL, Plon SE

Title

Rothmund-Thomson Syndrome.

Journal

GeneReviews (1993)

Reference

PMID:31303264 (RTS1)

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

Reference

PMID:23683351 (RTS2)

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

PMID:24389050 (RTS3)

Authors

Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS

Title

Genomic analysis of primordial dwarfism reveals novel disease genes.

Journal

Genome Res 24:291-9 (2014)
DOI:10.1101/gr.160572.113

Reference

PMID:37055165 (RTS4)

Authors

Di Lazzaro Filho R, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warman M, Passos-Bueno MR, Hoch NC, Bertola DR

Title

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

Journal

J Med Genet 60:1127-1132 (2023)
DOI:10.1136/jmg-2022-109119

LinkDB

» Japanese version

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