CHONDRODYSPLASIA PUNCTATA

EBP, ARSE, PEX7, GNPAT, AND AGPS GENE ANALYSIS IN CHONDRODYSPLASIA PUNCTATA

Chondrodysplasia punctata can be inherited as an X-linked dominant, X-linked recessive or autosomal recessive disorder. Germline variants in the EBP gene are associated with the X-linked dominant form which shows male lethality. The X-linked recessive form (CDPX1) is characterised by distal phalangeal hypoplasia and is associated with variants in the ARSE gene. Autosomal recessive forms of rhizomelic chondrodysplasia punctata (RCDP) are clinically indistinguishable from each other and are characterised by rhizomelic shortening of the upper extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation.  Autosomal recessive forms of RCDP are characterised by variants in the PEX7 gene (RCDP type 1) GNPAT gene (RCDP type 2) or AGPS gene (RCDP type 3).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.