Cockayne syndrome in three sisters with varying clinical presentation

Abstract

We report three sisters showing the clinical features and investigational findings of Cockayne syndrome (CS). In the rehabilitation unit of Northwest Armed Forces Hospital (N.W.A.F.H.), Tabuk, Saudi Arabia, there was a 12-year-old girl with typical features of CS. The girl had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. Brain CT, bone X-rays, auditory and ophthalmological evaluation confirmed the clinical impression of Cockayne syndrome. Two of her 13 sibs, both sisters, were later found to have the same syndrome. The sisters varied in clinical severity, as two of them had cataracts and early global delay and died early of inanition and infection. The third showed the disease manifestations at a relatively later age, did not have cataract, exhibited milder manifestations of the disease, and remains alive. The parents are not related by any way and the father is married to two other wives with 11 unaffected children. This report documents variable degrees of manifestations in sibs who presumably have the same gene mutation.

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

“…In addition, some degree of phenotypic variability has also been observed within the same family. 11 We conclude that the diagnosis of Cockayne syndrome is not always easy in the first months of life when cardinal features are not present; it should be considered when dealing with growth retardation and microcephaly. …”

Cockayne Syndrome Group B Cellular and Biochemical Functions

“…It is characterized by growth failure and multisystem progressive degeneration (Cockayne 1936;Nance and Berry 1992). More than 180 cases of CS have been reported from different parts of the world, with no apparent overrepresentation in any specific population (Nance and Berry 1992;Colella et al 1999;Mahmoud et al 2002). Different genotypes have been found to underlie CS.…”

Polymorphisms of the WRN gene and DNA damage of peripheral lymphocytes in age-related cataract in a Han Chinese population

“…Thus, the lens must have systems in place to efficiently repair oxidative DNA damage. There are numerous DNA repair genes, including CSB (Mahmoud et al 2002), XPD (Takayama et al 1996), Werner helicase (WRN) (Singh et al 2009), and human 8-oxoguanine DNA Nglycosylase 1 (hOGG1) (Yang et al 2006). The WRN gene plays an important role in aging and is known to function extensively in the DNA repair process (Singh et al 2009).…”