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COFS syndrome

MedGen UID:
1762238
Concept ID:
C5399761
Disease or Syndrome
Synonyms: Cerebro-oculo-facio-skeletal syndrome; Cerebrooculofacioskeletal Syndrome; PENA-SHOKEIR SYNDROME, TYPE II
SNOMED CT: CAMAK - Cerebro-oculo-facio-skeletal syndrome (41283003); CAMFAK - Cerebro-oculo-facio-skeletal syndrome (41283003); COFS - Cerebro-oculo-facio-skeletal syndrome (41283003); Pena-Shokeir syndrome type 2 (41283003); Cerebro-oculo-facio-skeletal syndrome (41283003); COFS syndrome (41283003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0008926
OMIM® Phenotypic series: PS214150
Orphanet: ORPHA1466

Definition

Cerebrooculofacioskeletal syndrome (COFS) is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome See also COFS2 (610756), caused by mutation in the ERCC2 gene (126340); COFS3 (616570), caused by mutation in the ERCC5 gene (133530); and COFS4 (610758), caused by mutation in the ERCC1 gene (126380). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • COFS syndrome

Professional guidelines

PubMed

Sirchia F, Fantasia I, Feresin A, Giorgio E, Faletra F, Mordeglia D, Barbieri M, Guida V, De Luca A, Stampalija T
BMC Med Genomics 2021 Mar 25;14(1):89. doi: 10.1186/s12920-021-00939-6. PMID: 33766032Free PMC Article
Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH
Am J Med Genet A 2014 Jul;164A(7):1777-83. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36506. PMID: 24700531

Recent clinical studies

Etiology

Sirchia F, Fantasia I, Feresin A, Giorgio E, Faletra F, Mordeglia D, Barbieri M, Guida V, De Luca A, Stampalija T
BMC Med Genomics 2021 Mar 25;14(1):89. doi: 10.1186/s12920-021-00939-6. PMID: 33766032Free PMC Article
Reunert J, van den Heuvel A, Rust S, Marquardt T
Am J Med Genet A 2021 Mar;185(3):930-936. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62048. PMID: 33369099
Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677
Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508
Pena SD, Evans J, Hunter AG
Birth Defects Orig Artic Ser 1978;14(6B):205-13. PMID: 728562

Diagnosis

Sirchia F, Fantasia I, Feresin A, Giorgio E, Faletra F, Mordeglia D, Barbieri M, Guida V, De Luca A, Stampalija T
BMC Med Genomics 2021 Mar 25;14(1):89. doi: 10.1186/s12920-021-00939-6. PMID: 33766032Free PMC Article
Panigrahi I, Shankar Prasad BA, Kaur H, Kalra J
Am J Med Genet A 2021 Feb;185(2):631-635. Epub 2020 Nov 21 doi: 10.1002/ajmg.a.61979. PMID: 33219753
Hosseini M, Ezzedine K, Taieb A, Rezvani HR
J Invest Dermatol 2015 Feb;135(2):341-351. Epub 2014 Oct 9 doi: 10.1038/jid.2014.365. PMID: 25296907
Laugel V
Mech Ageing Dev 2013 May-Jun;134(5-6):161-70. Epub 2013 Feb 18 doi: 10.1016/j.mad.2013.02.006. PMID: 23428416
Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D
Am J Med Genet A 2004 Jul 30;128A(3):235-45. doi: 10.1002/ajmg.a.30060. PMID: 15216543

Therapy

Hosseini M, Ezzedine K, Taieb A, Rezvani HR
J Invest Dermatol 2015 Feb;135(2):341-351. Epub 2014 Oct 9 doi: 10.1038/jid.2014.365. PMID: 25296907
Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677
Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
Am J Hum Genet 2001 Aug;69(2):291-300. Epub 2001 Jul 3 doi: 10.1086/321295. PMID: 11443545Free PMC Article
Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ
J Med Genet 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. PMID: 8818951Free PMC Article
Patton MA, Giannelli F, Francis AJ, Baraitser M, Harding B, Williams AJ
J Med Genet 1989 Mar;26(3):154-9. doi: 10.1136/jmg.26.3.154. PMID: 2468771Free PMC Article

Prognosis

Reunert J, van den Heuvel A, Rust S, Marquardt T
Am J Med Genet A 2021 Mar;185(3):930-936. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62048. PMID: 33369099
Panigrahi I, Shankar Prasad BA, Kaur H, Kalra J
Am J Med Genet A 2021 Feb;185(2):631-635. Epub 2020 Nov 21 doi: 10.1002/ajmg.a.61979. PMID: 33219753
Mau U, Kendziorra H, Kaiser P, Enders H
Am J Med Genet 1997 Aug 8;71(2):179-85. doi: 10.1002/(sici)1096-8628(19970808)71:2<179::aid-ajmg11>3.0.co;2-b. PMID: 9217218
Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ
J Med Genet 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. PMID: 8818951Free PMC Article
Pena SD, Evans J, Hunter AG
Birth Defects Orig Artic Ser 1978;14(6B):205-13. PMID: 728562

Clinical prediction guides

Panigrahi I, Shankar Prasad BA, Kaur H, Kalra J
Am J Med Genet A 2021 Feb;185(2):631-635. Epub 2020 Nov 21 doi: 10.1002/ajmg.a.61979. PMID: 33219753
Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677
Suhasini AN, Brosh RM Jr
Mutat Res 2013 Apr-Jun;752(2):138-152. Epub 2012 Dec 28 doi: 10.1016/j.mrrev.2012.12.004. PMID: 23276657Free PMC Article
Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
Am J Hum Genet 2001 Aug;69(2):291-300. Epub 2001 Jul 3 doi: 10.1086/321295. PMID: 11443545Free PMC Article
Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ
J Med Genet 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. PMID: 8818951Free PMC Article

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