Rothmund-Thomson Syndrome

Alternative Names

  • RTS
  • Poikiloderma Atrophicans and Cataract

Associated Genes

RECQ Protein-Like 4
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

268400

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8q24.3

Description

Rothmund-Thomson syndrome (RTS) is a rare genetic disease that affects many parts of the body, particularly the skin. Typically, the condition starts out as a rash on the cheek which progresses to erthema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectases.  

The condition is caused by mutations in the helicase gene, RECQL4, which is the only gene associated with RTS to date. RECQL4 gene normally encodes ATP-dependent DNA helicase Q4 that has homology to a family of proteins known as RecQ helicases. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
268400.1United Arab EmiratesUnknownYes Premature birth; Intrauterine growth re...NM_004260.3:c.1000G>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2016

Other Reports

Lebanon

El-Khoury et al. (1997) described a case of a female child with multicentric osteosarcoma associated with Rothmund-Thomson syndrome (RTS).

Libya

Bugrein et al. (1995) described the first RTS case in Libya. The child was born to consanguineous parents, and  had a sister who died at the age of eight months because of congenital anomalies in the heart. 

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