Skip to main content
Fig. 3 | BMC Medical Genomics

Fig. 3

From: Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

Fig. 3

a Pedigree with cutis laxa type IC. Filled symbols represent affected individuals, open symbols unaffected individuals, semi filled represent carriers, squares depict males and circles depict females, crisscrossing lines indicate deceased individuals, a question mark means the cause of death remains unknown and the proband is indicated by an arrow. b The three-dimensional structure modeling predicts a decrease in protein length with B1 as the wild-type and B2 and B3, the mutant-types (B2: p.Ser204fs * 8; B3:p.Arg574fs * 199). c, d Sanger sequencing chromatograms showing variations in the affected individuals in comparison to those of unaffected individuals (c is the sequencing result of c.605_606delGT and d is the sequencing result of c.1719delC), II:1 is elder brother, II:2 is the second elder sister, II:3 is proband and I:1 is father, I:2 is mother

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us