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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

Fig. 2

Exome sequencing identifies unreported mutations in ITGA3 gene. a Schematic representation of the exome-data-filtering approach under the assumption of autosomal recessive inheritance of the skin disease with lung involvement in the family. MS: missense; SS: splice site; STOP: nonsense; InDel: insertion and/or deletion. b The pedigree of the siblings with the index case: the carrier status of the parents, each bearing a different mutation, and the compound heterozygous affected siblings are indicated. [=]: wild type allele. c DNA electropherograms showing the c.373G>A and c.821G>A transitions in the ITGA3 gene (NM_002204). d Agarose gel showing the RT-PCR products amplified by two different primer pairs (F1-R1, F2-R2) in the control cDNA (C+) as well as in the index case (II-1). The sequencing chromatograms of the two fragments spanning the mutation sites are provided below. C-: negative control. e Evolutionary comparison across α3 subunit orthologs in nine animal species from human to lamprey shows conservation of the two amino acid residues glycine 125 and arginine 274 (NP_002195) in the siblings family

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