Alternative titles; symbols
ORPHA: 300333;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 11p15.5 | Epidermolysis bullosa simplex 7, with nephropathy and deafness | 609057 | Autosomal recessive | 3 | CD151 | 602243 |
A number sign (#) is used with this entry because of evidence that epidermolysis bullosa simplex-7 with nephropathy and deafness (EBS7) is caused by homozygous mutation in the CD151 gene (602243) on chromosome 11p15.
Epidermolysis bullosa simplex-7 with nephropathy and deafness (EBS7) is characterized by the presence of skin blistering at birth, particularly in the tibial area but also scattered on other parts of the body, particularly those exposed to trauma. Nephropathy manifests with proteinuria (summary by Has et al., 2020).
For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).
Kagan et al. (1988) described 2 sibs with an apparently unique association of hereditary nephritis, epidermolysis bullosa, and beta-thalassemia minor. The sibs were a 19-year-old boy and his 17-year-old sister (of an 'Oriental Jewish' family). They had been on hemodialysis for 5 years and continuous ambulatory peritoneal dialysis for 1 year, respectively. Both showed multiple recurrent infected skin blisters of the legs followed by atrophy, nail dystrophy, bilateral lacrimal duct stenosis, sensorineural deafness, proteinuria in the nephrotic range, and anemia due to beta-thalassemia minor.
The transmission pattern of EBS7 in the family reported by Kagan et al. (1988) was consistent with autosomal recessive inheritance.
Karamatic Crew et al. (2004) demonstrated that the sibs described by Kagan et al. (1988) and a third patient were negative for the MER2 blood group antigen (see 179620), which is expressed by the CD151 gene. All 3 were homozygous for a 1-bp insertion in the CD151 gene (602243.0001), causing a frameshift and a premature stop signal, with the resultant truncated protein lacking the integrin-binding domain. Dystrophic pretibial epidermolysis bullosa (131850) is caused by mutation in the COL7A1 gene (120120), but renal disease and deafness are unassociated. Association of deafness and nephropathy suggested Alport syndrome, which is usually inherited as an X-linked disorder (301050) and caused by mutation in the COL4A5 gene (303630). Autosomal recessive Alport syndrome (ATS2, 203780; ATS3B, 620536) is caused by mutation in the COL4A4 (120131) or COL4A3 (120070) genes, respectively.
Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Brit. J. Derm. 183: 614-627, 2020. [PubMed: 32017015] [Full Text: https://doi.org/10.1111/bjd.18921]
Kagan, A., Feld, S., Chemke, J., Bar-Khayim, Y. Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease. (Letter) Nephron 49: 331-332, 1988. [PubMed: 3412548] [Full Text: https://doi.org/10.1159/000185086]
Karamatic Crew, V., Burton, N., Kagan, A., Green, C. A., Levene, C., Flinter, F., Brady, R. L., Daniels, G., Anstee, D. J. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. Blood 104: 2217-2223, 2004. [PubMed: 15265795] [Full Text: https://doi.org/10.1182/blood-2004-04-1512]