CC2D2A and Meckel syndrome, type 1: MKS is a lethal autosomal recessive disorder and known to be a genetically heterogenous disease with seven causative genes [3]: MKS1 (OMIM 249000), 17q23, MKS1 gene (OMIM 609883); MKS2 (OMIM 603194), 11q13, TMEM216 gene (OMIM 613277); MKS3 (OMIM 607361), 8q21.13-q22.1, TMEM67 gene (OMIM 609884); MKS4 (OMIM 611134), 12q21.3, CEP290 gene (OMIM 610142); MKS5 (OMIM 611561), 16q12.2, RPGRIP1L gene (OMIM 610937); MKS6 (OMIM 612284), 4p15, CC2D2A gene (OMIM 612013) and MKS7 (OMIM 267010), 3q22, NPHP3 gene (OMIM 608002) (http://www.ncbi.nlm.nih.gov/omim).