Cockayne syndrome

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Cockayne syndrome
Classification and external resources
ICD-10 Q87.1 (ILDS Q87.110)
ICD-9 759.8
OMIM 216400 133540 216411
DiseasesDB 2907
eMedicine ped/424
MeSH D003057

Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal recessive,[1] congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.[2] Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies (conditions characterized by degradation of white matter). The underlying disorder is a defect in a DNA repair mechanism.[3]

It is named after English physician Edward Alfred Cockayne (1880–1956) and English dermatologist Frederick Parkes Weber (1863–1962). Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill.[4]

Forms of Cockayne syndrome (CS)[edit]

  • CS Type I, the classic form, is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Impairment of vision, hearing, and the central and peripheral nervous systems progressively degenerate until death in the first or second decade of life.
  • CS Type II, otherwise known as connatal CS, involves very little neurological development after birth. Death usually occurs by age seven. This specific type has also been designated as cerebro-oculo-facio-skeletal (COFS) syndrome.[5][6] COFS syndrome can be further subdivided into several conditions (COFS types 1, 2, 3 (associated with xeroderma pigmentosum) and 4).[7]
  • CS Type III, characterized by late onset, is rare and milder than Types I and II.
  • Xeroderma pigmentosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed.

Genetics[edit]

Cockayne syndrome has an autosomal recessive pattern of inheritance.

Cockayne syndrome is classified genetically as follows:

Type OMIM Gene
A 216400 ERCC8
B 133540 ERCC6
C 216411 none known

Mutations in the ERCC6 and ERCC8 genes are the cause of Cockayne syndrome. The proteins made by these genes are involved in repairing damaged DNA via the transcription-coupled repair mechanism, particularly the DNA in active genes. If either the ERCC6 or the ERCC8 gene is altered, DNA damage is not repaired. As this damage accumulates, it can lead to malfunctioning cells or cell death.

Mutations in the ERCC6 gene mutation makes up ~70% of cases.

Physical appearance[edit]

Persons with this syndrome have smaller than normal head sizes, are of short stature, their eyes appear sunken, and they have an "aged" look.

Treatment[edit]

There is no permanent cure for this syndrome although patients can be treated according to their specific symptoms. Usually physical therapy and minor surgeries to the affected organs. Also wearing high-factor sunscreen is recommended as exposure to the sun can cause practical problems.[8][9][10]

See also[edit]

External links[edit]

References[edit]

  1. ^ Bertola, Dr; Cao, H; Albano, Lm; Oliveira, Dp; Kok, F; Marques-Dias, Mj; Kim, Ca; Hegele, Ra (2006). "Cockayne syndrome type A: novel mutations in eight typical patients". Journal of Human Genetics 51 (8): 701–5. doi:10.1007/s10038-006-0011-7. PMID 16865293. 
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 575. ISBN 0-7216-2921-0. 
  3. ^ Hoeijmakers JH (October 2009). "DNA damage, aging, and cancer". N. Engl. J. Med. 361 (15): 1475–85. doi:10.1056/NEJMra0804615. PMID 19812404. 
  4. ^ Cockayne's syndrome at Who Named It?
  5. ^ http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1649&Disease_Disease_Search_diseaseGroup=Cerebro-oculo-facio-skeletal-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s) concerned=COFS-syndrome--Cerebrooculofacioskeletal-syndrome-&title=COFS-syndrome--Cerebrooculofacioskeletal-syndrome-&search=Disease_Search_Simple
  6. ^ Online 'Mendelian Inheritance in Man' (OMIM) Cerebrooculofacioskeletal Syndrome 1; COFS1 -214150
  7. ^ Online 'Mendelian Inheritance in Man' (OMIM) Cerebrooculofacioskeletal Syndrome 2; COFS2 -610756
    Online 'Mendelian Inheritance in Man' (OMIM) Xeroderma Pigmentosum, Complementation Group G; XPG -278780
    Online 'Mendelian Inheritance in Man' (OMIM) Cerebrooculofacioskeletal Syndrome 4; COFS4 -610758
  8. ^ http://emedicine.medscape.com/article/942516-treatment
  9. ^ http://www.cockaynesyndrome.net/main/AboutCS.aspx
  10. ^ http://www.socialstyrelsen.se/rarediseases/cockaynesyndrome#anchor_4
  11. ^ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1317