title: Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.
abstract: COL4A1 mutations have been associated with cerebral small-vessel disease, including perinatal intracerebral hemorrhage with consequent porencephaly, microbleeds, and lacunar strokes. Moreover, involvement of multiple organs and tissues like kidney, muscle, and large vessels have been reported. Three related patients with porencephaly bearing the G749S mutation in the COL4A1 gene and one healthy control belonging to the same family underwent skin biopsy. Tissue was examined by means of immunofluorescence microscopy and immunoreactivity for collagen type IV in skin basement membranes was tested. In subjects with COL4A1 mutation, we did not detect significant alterations of immunofluorescence patterns in basal membranes of different skin structures. Heterozygous COL4A1 G749S mutation is associated with a normal immunofluorescence pattern of skin basement membranes. Further studies are needed to clarify the role of possible functional abnormalities of the basement membranes in patients with this mutation.
authors.affiliation: Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.|Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Gasparini
authors.affiliation: Institute of Neurological Sciences, National Research Council, Cosenza, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Qualtieri
authors.affiliation: Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.|Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Ferlazzo
authors.affiliation: Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
authors.forename: Vittoria
authors.initials: V
authors.lastname: Cianci
authors.affiliation: Institute of Neurological Sciences, National Research Council, Cosenza, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Patitucci
authors.affiliation: Institute of Neurological Sciences, National Research Council, Cosenza, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Spadafora
authors.affiliation: Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy. u.aguglia@tin.it.|Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy. u.aguglia@tin.it.
authors.forename: Umberto
authors.initials: U
authors.lastname: Aguglia
mesh_terms: D000328:Adult; D001485:Basement Membrane / Q000098:blood supply / Q000294:innervation / Q000378:metabolism / Q000473:pathology*; D024141:Collagen Type IV / Q000235:genetics / Q000378:metabolism*; D005190:Family; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D009154:Mutation; D065708:Porencephaly / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D012627:Sebaceous Glands / Q000378:metabolism / Q000473:pathology; D055815:Young Adult
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV
keywords: Basement membrane; COL4a1; G749S mutation; Immunofluorescence; Skin