We have found that in 17 of 19 families we studied, pEDS is associated with heterozygous mutations in either of two adjacent genes in the linked region: C1R (MIM: 613785) (in 15 …

People with pEDS typically have a pathogenic variant in one copy of either the C 1R or C1S gene. pEDS is inherited in an autosomal dominant pattern. This means it can be passed on and …

Dec 18, 2019 · Two different C1S mutations have been initially identified in pEDS patients: the deletion of Val316 (p.Val316del) and the substitution of Cys294 into Arg (p.Cys294Arg), both …

Nov 3, 2016 · In 17 of these families, we identified heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S (2 families), contiguous genes in the …

Nov 4, 2019 · We recently showed that pEDS is caused by heterozygous missense or in-frame insertion/deletion mutations in C1R or C1S (4). These genes code for complement 1 subunits …

Periodontal Ehlers-Danlos syndrome (pEDS) is a rare condition caused by pathogenic variants in the C1R and C1S genes, encoding subunits C1r and C1s of the first component of the …

Nov 3, 2016 · Heterozygous C1R or C1S mutations we identified in pEDS-affected individuals appear to have gain-of-function effects on as yet unidentified targets either within the cells or …

From previous research (Kapferer-Seebacher et al., 2016), it is confirmed that pEDS is caused by pathogenic variants C1R (type 1, MIM 613785) and C1S (type 2, MIM 120580) genes, which …

Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin …

In 17 of these families, we identified heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S (2 families), contiguous genes in the mapped locus that …