Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype.
A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the skin. This case, together with 17 other similar cases, could represent a new type of connective tissue disease.
Bonneau
D
D
Pédiatrie Génétique, CHU La Milétrie, Poitiers, France.
Huret
J L
JL
Godeau
G
G
Couet
D
D
Putterman
M
M
Tanzer
J
J
Babin
P
P
Larrègue
M
M
D002478:Cells, Cultured; D002897:Chromosomes, Human, Pair 7; D003483:Cutis Laxa / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D007223:Infant; D007621:Karyotyping; D007797:Laminin / Q000235:genetics*; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
D007797:Laminin