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COFS syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth delay and severe psychomotor retardation. In a consanguineous Finnish pedigree, six affected individuals in four sibships were homozygous for a founder ERCC6 mutation, establishing a genetic basis for COFS syndrome (PMID:20456449). No functional assays specific to ERCC6 in COFS syndrome have been reported.
Molecular confirmation via ERCC6 sequencing in suspected COFS cases enables definitive diagnosis, informed genetic counseling and accurate recurrence risk estimation.
Gene–Disease AssociationLimitedSingle consanguineous pedigree with six affected individuals in four sibships confirming a homozygous ERCC6 founder mutation ([PMID:20456449]). Genetic EvidenceLimitedSix probands from one founder family with segregating homozygous variant in ERCC6 ([PMID:20456449]). Functional EvidenceNo evidenceNo functional or experimental studies reported for ERCC6 in COFS syndrome. |