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COFS syndrome

MedGen UID:
893347
•Concept ID:
CN239231
•
Disease or Syndrome
Synonyms: Cerebro-oculo-facio-skeletal syndrome; Cerebrooculofacioskeletal Syndrome; PENA-SHOKEIR SYNDROME, TYPE II
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).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008926
OMIM® Phenotypic series: PS214150
Orphanet: ORPHA1466

Definition

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. [from ORDO]

Term Hierarchy

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

Professional guidelines

PubMed

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential 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
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
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

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential 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
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.
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
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.
Del Bigio MR, Greenberg CR, Rorke LB, Schnur R, McDonald-McGinn DM, Zackai EH
J Neuropathol Exp Neurol 1997 Oct;56(10):1147-57. doi: 10.1097/00005072-199710000-00009. PMID: 9329459
COFS syndrome revisited.
Pena SD, Evans J, Hunter AG
Birth Defects Orig Artic Ser 1978;14(6B):205-13. PMID: 728562

Therapy

Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.
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
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.
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
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
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
Xeroderma pigmentosum--Cockayne syndrome complex: a further case.
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
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.
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

Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
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
COFS type 3 in an Indian family with antenatally detected arthrogryposis.
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
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
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
Restrictive dermopathy: report and review.
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
COFS syndrome revisited.
Pena SD, Evans J, Hunter AG
Birth Defects Orig Artic Ser 1978;14(6B):205-13. PMID: 728562

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