Cerebro-oculo-facio-skeletal-syndrome (COFS)

COFS syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and facial dysmorphism with prominent nasal root and/or overhanging upper lip. This syndrome is now recognized as a disorder belonging to the spectrum of inherited defects in Nucleotide Excision Repair (NER) resulting in profound photosensitivity. In COFS syndrome, as in Cockayne syndrome, DNA repair is impaired in the transcription‑coupled NER pathway, but not in the global genome NER pathway. Fourteen cases so far described as COFS syndrome have been studied at the molecular levels. All mutations have been found in Cockayne syndrome gene, CSB, xeroderma pigmentosum genes, XPD and XPG and ERCC1 gene involved in the transcription‑coupled NER pathway.

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
214150 cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) ERCC6 (CSB) mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS syndrome 1
Pena-Shokeir syndrome type 2
COFS1 nucleotide excision repair (NER)
610758 cerebro-oculo-facio-skeletal syndrome 4 (COFS4) ERCC1 microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS4 syndrome COFS4 Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
278800 De Sanctis-Cacchione syndrome (DSC) ERCC6 (CSB) growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS), mental retardation (MR) xerodermic idiocy DSC nucleotide excision repair (NER)
133540 Cockayne syndrome, TYPE B (CSB) ERCC6 (CSB) microcephaly, mental retardation (MR), psychomotor impairment, sensitivity to radiation, NO CANCER development, eye or vision problem, cerebro-oculo-facio-skeletal-syndrome (COFS) CSB syndrome CSB nucleotide excision repair (NER)
610756 cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) ERCC2 (XPD) neurodegenerative disease, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS2 syndrome COFS2 nucleotide excision repair (NER), transcription factors
xxx8 cerebro-oculo-facio-skeletal syndrome 3 (COFS3) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS3 syndrome COFS3 nucleotide excision repair (NER)

Last modification date: Aug. 17, 2011