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The aim of this study was to conduct a formal pedigree analysis of the involvement of the elastin gene in families. From 140 subjects with renal FMD documented on angiography, family cases with documented renal artery fibromuscular dysplasia (FMD) and to test pedigrees were constructed and familial cases defined by angiographic evidence of FMD in at least one sibling. Familial screening was made either by echodoppler for asymptomatic subjects or by digital intravenous angiography for hypertensive subjects. Linkage analysis at the elastin gene locus was performed in these families with two polymorphic markers: one diallelic RFLP located in exon 16 and one multiallelic CA repeat located in intron 17 of the elastin gene. Fourteen pedigrees (10%) were obtained including nine sibling pairs, four trios and one vertical transmission from a father to his daughter. Most affected subjects were females (84%) but familial cases were more frequently bilateral than sporadic cases (80% vs 49%, p = 0.07). Pedigrees analysis was compatible with an autosomal dominant mode of inheritance and suggested in these families an age and sex-dependent incomplete penetrance model. Linkage analysis resulted in a maximum two-point lod score of 0.06 at theta = 0.20 using the dinucleotide CA repeat. Analysis of the diallelic marker revealed similar frequencies in affected and non affected subjects. This study highlights the role of genetics factors in approximately 10% of FMD cases. The elastin gene does not seem to be involved in the pathogenesis of FMD.
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
January 2011,
Presse medicale (Paris, France : 1983),
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
June 2010,
Techniques in vascular and interventional radiology,
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
May 1997,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association,
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
March 1971,
Zeitschrift fur Urologie und Nephrologie,
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
January 2014,
Therapeutics and clinical risk management,
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
November 2003,
Annals of vascular surgery,
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
February 2000,
Nihon rinsho. Japanese journal of clinical medicine,
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
August 2019,
European heart journal,
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
January 1993,
Pediatric radiology,
P Grimbert, and
B Fiquer-Kempf, and
P Coudol, and
A Vuagnat, and
I Pannier-Moreau, and
P Corvol, and
P F Plouin, and
X Jeunemaître
July 2011,
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions,
