COFS type 3 in an Indian family with antenatally detected arthrogryposis.

American Journal of Medical Genetics. Part a
Inusha PanigrahiJasvinder Kalra

Abstract

Fetal akinesia and contractures can be caused by mutations in various genes that lead to overlapping phenotypes with contractures, rocker bottom feet, cerebellar hypoplasia, ventriculomegaly, growth retardation, pulmonary hypoplasia, cystic hygroma and cleft palate in various combinations. Cerebro-oculo-facio-skeletal (COFS) syndrome is a condition resulting from defects in DNA repair pathway, and genes involved include ERCC1 (COFS), ERCC2 (XPD), ERCC5(XPG), and ERCC6 (CSB). It is a severe disorder presenting in fetal or neonatal period with microcephaly, arthrogryposis, prominent nose, and kyphoscoliosis, and leads to early death in childhood. We report a baby with antenatally identified arthrogryposis in which the homozygous pathogenic variant in exon 8 was identified in ERCC5 gene, by targeted next generation sequencing. This was predicted to cause premature chain termination in the protein. ERCC5 gene is mainly implicated in xeroderma pigmentosum, sometimes in COFS syndrome.

References

Apr 1, 1997·Proceedings of the National Academy of Sciences of the United States of America·T NouspikelS G Clarkson
Mar 24, 2016·Orphanet Journal of Rare Diseases·Nadège CalmelsVincent Laugel
Mar 25, 2017·Neuromuscular Disorders : NMD·Ebtesam AbdallaNigel G Laing
Jan 2, 2018·American Journal of Human Genetics·Lucie GueneauAlexandre Reymond
Feb 14, 2020·American Journal of Medical Genetics. Part a·Pauline Le Van QuyenMaria C Antal

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