ORPHA: 90348; DO: 0070136;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 14q32.12 | ?Cutis laxa, autosomal dominant 2 | 614434 | Autosomal dominant | 3 | FBLN5 | 604580 |
A number sign (#) is used with this entry because of evidence that autosomal dominant cutis laxa-2 (ADCL2) is caused by heterozygous mutation in the fibulin-5 gene (FBLN5; 604580) on chromosome 14q32. One such patient has been reported.
Homozygous mutation in FBLN5 can cause an autosomal recessive form of cutis laxa (ARCL1A; 219100).
Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003).
For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (123700).
Markova et al. (2003) described an African American female patient with autosomal dominant cutis laxa. Extensive folding and redundant skin on the abdomen and arms were present shortly after birth. No signs of internal organ involvement were noted. Echocardiography and electrocardiography revealed mitral valve regurgitation. The parents were unaffected. At reexamination at age 11 years the patient was noted no have slightly hyperextensible skin, which demonstrated wrinkling on the back of the hands and the wrists, and slightly accentuated excessive skin folds on the abdomen. The cutaneous manifestations were noted to have improved significantly. The patient developed scoliosis.
In a patient with autosomal dominant cutis laxa, Markova et al. (2003) identified a 483-bp duplication in the FBLN5 gene (604580.0002). A dominant-negative effect of the mutation was proposed.
Markova, D., Zou, Y., Ringpfeil, F., Sasaki, T., Kostka, G., Timpl, R., Uitto, J., Chu, M.-L. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am. J. Hum. Genet. 72: 998-1004, 2003. [PubMed: 12618961] [Full Text: https://doi.org/10.1086/373940]