Description: Zmpste24 (also called FACE-1) is a metalloproteinase involved in the maturation of lamin A, an essential component of the nuclear envelope. Both ZMPSTE24 and LMNA deficient mice exhibit profound nuclear architecture abnormalities and multiple histopathological defects that determine an accelerated ageing process. Similarly, diverse human progeroid syndromes are caused by mutations in ZMPSTE24 or LMNA genes. In particular, defects in ZMPSTE24 gene are known to cause: mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] and lethal tight skin contracture syndrome [MIM:275210], also called restrictive dermopathy (RD). 

Principle of the assay: The kit is composed of 9 PCR mixes containing all reagents and primers necessary for the amplification of a specific ZMPSTE24 gene region that comprises: one exon and its flanking regions, the entire 5’ UTR, partial 3’UTR, or two exons and the intron included, as illustrated in the figure and table below. PCR primers are composed of a specific ZMPSTE24 target sequence with flanking priming sites for M13 Forward or Reverse primers for subsequent sequencing reaction.Their special composition allows the sequencing of all ZMPSTE24 coding regions using only two universal primers (M13 forward and M13 reverse). As consequence, only two sequencing reaction mixes are sufficient to obtain the entire coding sequence of the gene, eliminating the need to use several sequencing primers.