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Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
- Source :
- Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.36. ⟨10.1186/1750-1172-8-36⟩, Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.36. ⟨10.1186/1750-1172-8-36⟩, ORPHANET JOURNAL OF RARE DISEASES, Orphanet journal of rare diseases, 8(1). BioMed Central, Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.36. 〈10.1186/1750-1172-8-36〉
- Publication Year :
- 2013
- Publisher :
- HAL CCSD, 2013.
-
Abstract
- International audience; ABSTRACT: BACKGROUND: Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. In most patients, frameshift mutations are found in the 3' region of the elastin gene (exons 30-34) which result in a C-terminally extended protein, though exceptions have been reported. METHODS: We clinically and molecularly characterized the thus far largest cohort of ADCL patients, consisting of 19 patients from six families and one sporadic patient. RESULTS: Molecular analysis showed C-terminal frameshift mutations in exon 30, 32, and 34 of the elastin gene and identified a mutational hotspot in exon 32 (c.2262delA). This cohort confirms the previously reported clinical constellation of skin laxity (100%), inguinal hernias (51%), aortic root dilatation (55%) and emphysema (37%). CONCLUSION: ADCL is a clinically and molecularly homogeneous disorder, but intra- and interfamilial variability in the severity of organ involvement needs to be taken into account. Regular cardiovascular and pulmonary evaluations are imperative in the clinical follow-up of these patients.
- Subjects :
- Male
Proband
Pathology
10039 Institute of Medical Genetics
Hernia, Inguinal
[SDV.GEN] Life Sciences [q-bio]/Genetics
Gene mutation
Severity of Illness Index
DISEASE
Cutis Laxa
Autosomal dominant cutis laxa
Exon
0302 clinical medicine
Medicine and Health Sciences
2736 Pharmacology (medical)
Genetics(clinical)
Pharmacology (medical)
Frameshift Mutation
MUTATION
Genetics (clinical)
Genes, Dominant
Skin
Genetics
Medicine(all)
0303 health sciences
biology
Exons
General Medicine
3. Good health
Phenotype
Pulmonary Emphysema
C-TERMINAL EXTENSION
Female
FORM
2716 Genetics (clinical)
medicine.medical_specialty
Genotype
ELASTIN GENE
610 Medicine & health
Frameshift mutation
03 medical and health sciences
PROCOLLAGEN
medicine
Humans
TROPOELASTIN
Hernia
030304 developmental biology
[SDV.GEN]Life Sciences [q-bio]/Genetics
business.industry
Research
DEGRADATION
medicine.disease
Elastin
Ehlers–Danlos syndrome
DERMATOSPARAXIS
biology.protein
570 Life sciences
ELN
[ SDV.GEN ] Life Sciences [q-bio]/Genetics
business
EHLERS-DANLOS-SYNDROME
030217 neurology & neurosurgery
Cutis laxa
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Database :
- OpenAIRE
- Journal :
- Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.36. ⟨10.1186/1750-1172-8-36⟩, Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.36. ⟨10.1186/1750-1172-8-36⟩, ORPHANET JOURNAL OF RARE DISEASES, Orphanet journal of rare diseases, 8(1). BioMed Central, Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.36. 〈10.1186/1750-1172-8-36〉
- Accession number :
- edsair.doi.dedup.....4bbbc727ec2567eba317012b0ad47b48