Fig. 7

Cascade family segregation and clinical screening is mandatory to define gene mutation association with the disease. a Family pedigree of AC. Black, white, and hatched symbols represent clinically affected individuals, unaffected individuals, and individuals of unknown disease status, respectively. Presence (+) or absence (−) of 2 desmoglein-2 (DSG2) mutations (c.991 G > A and c.1881 -2A > G) is indicated. Arrow indicate index case. b Criteria of testing mutation pathogenicity. Top- Missense mutation c.991 G > A showing aminoacid residue change, absence in large control population (Minor Allele Frequency-MAF), evolutionary conservation of aminoacid residues and in silico prediction algorithms. Bottom- splicing site mutation molecular assay showing 2 different trascripts. (modified from Ref.48)