American journal of human genetics, 2009-08, Vol.85 (2), p.254-263
- Basel-Vanagaite, Lina
- Sarig, Ofer
- Hershkovitz, Dov
- Fuchs-Telem, Dana
- Rapaport, Debora
- Gat, Andrea
- Isman, Gila
- Shirazi, Idit
- Shohat, Mordechai
- Enk, Claes D.
- Birk, Efrat
- Kohlhase, Jürgen
- Matysiak-Scholze, Uta
- Maya, Idit
- Knopf, Carlos
- Peffekoven, Anette
- Hennies, Hans-Christian
- Bergman, Reuven
- Horowitz, Mia
- Ishida-Yamamoto, Akemi
- Sprecher, Eli
2009
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- Autor(en) / Beteiligte
- Basel-Vanagaite, Lina
- Sarig, Ofer
- Hershkovitz, Dov
- Fuchs-Telem, Dana
- Rapaport, Debora
- Gat, Andrea
- Isman, Gila
- Shirazi, Idit
- Shohat, Mordechai
- Enk, Claes D.
- Birk, Efrat
- Kohlhase, Jürgen
- Matysiak-Scholze, Uta
- Maya, Idit
- Knopf, Carlos
- Peffekoven, Anette
- Hennies, Hans-Christian
- Bergman, Reuven
- Horowitz, Mia
- Ishida-Yamamoto, Akemi
- Sprecher, Eli
- Titel
- RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome
- Ist Teil von
- American journal of human genetics, 2009-08, Vol.85 (2), p.254-263
- Ort / Verlag
- Cambridge, MA: Elsevier Inc
- Erscheinungsjahr
- 2009
- Quelle
- Elsevier ScienceDirect Journals
- Beschreibungen/Notizen
- Inherited disorders of elastic tissue represent a complex and heterogeneous group of diseases, characterized often by sagging skin and occasionally by life-threatening visceral complications. In the present study, we report on an autosomal-recessive disorder that we have termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis). The disorder was mapped to chromosome 20p11.21-p11.23, and a homozygous frameshift mutation in RIN2 was found to segregate with the disease phenotype in a large consanguineous kindred. The mutation identified results in decreased expression of RIN2, a ubiquitously expressed protein that interacts with Rab5 and is involved in the regulation of endocytic trafficking. RIN2 deficiency was found to be associated with paucity of dermal microfibrils and deficiency of fibulin-5, which may underlie the abnormal skin phenotype displayed by the patients.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0002-9297eISSN: 1537-6605DOI: 10.1016/j.ajhg.2009.07.001Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2725231
- Format
- –
- Schlagworte
- Adolescent, Adult, Alopecia - genetics, Biological and medical sciences, Carrier Proteins - genetics, Case-Control Studies, Chromosome Mapping, Chromosomes, Chromosomes, Human, Pair 20, Consanguinity, Cutis Laxa - genetics, Cutis Laxa - metabolism, Dermatologic Surgical Procedures, Dermatology, Dermis - metabolism, Dermis - pathology, Elastic Tissue - metabolism, Elastic Tissue - ultrastructure, Extracellular Matrix Proteins - metabolism, Frameshift Mutation, Fundamental and applied biological sciences. Psychology, General aspects. Genetic counseling, Genes, Recessive, Genetic disorders, Genetics of eukaryotes. Biological and molecular evolution, Genotype & phenotype, Guanine Nucleotide Exchange Factors - deficiency, Guanine Nucleotide Exchange Factors - genetics, Hair and nails disorders, Homozygote, Humans, Immunohistochemistry, Medical genetics, Medical sciences, Molecular and cellular biology, Mutation, Phenotype, Proteins, Radiography, Scoliosis - genetics, Skin, Skin - metabolism, Skin - pathology, Skull - diagnostic imaging, Skull - growth & development, Syndrome, Tissues