TY - JOUR
T1 - RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
T2 - MACS Syndrome
AU - Basel-Vanagaite, Lina
AU - Sarig, Ofer
AU - Hershkovitz, Dov
AU - Fuchs-Telem, Dana
AU - Rapaport, Debora
AU - Gat, Andrea
AU - Isman, Gila
AU - Shirazi, Idit
AU - Shohat, Mordechai
AU - Enk, Claes D.
AU - Birk, Efrat
AU - Kohlhase, Jürgen
AU - Matysiak-Scholze, Uta
AU - Maya, Idit
AU - Knopf, Carlos
AU - Peffekoven, Anette
AU - Hennies, Hans Christian
AU - Bergman, Reuven
AU - Horowitz, Mia
AU - Ishida-Yamamoto, Akemi
AU - Sprecher, Eli
PY - 2009/8/14
Y1 - 2009/8/14
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=68249083253&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2009.07.001
DO - 10.1016/j.ajhg.2009.07.001
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AN - SCOPUS:68249083253
SN - 0002-9297
VL - 85
SP - 254
EP - 263
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 2
ER -