Clinical and molecular features of Joubert syndrome and related disorders. Export

@article{citeulike:6073961, abstract = {Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. (c) 2009 Wiley-Liss, Inc.}, author = {Parisi, Melissa A.}, citeulike-article-id = {6073961}, citeulike-linkout-0 = {http://dx.doi.org/10.1002/ajmg.c.30229}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/19876931}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=19876931}, day = {28}, doi = {10.1002/ajmg.c.30229}, issn = {1552-4876}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, keywords = {ahi1, cep290, jouberts-syndrome, mir, mirs}, month = {October}, number = {4}, pages = {326--340}, posted-at = {2009-11-05 11:04:06}, priority = {2}, title = {Clinical and molecular features of Joubert syndrome and related disorders.}, url = {http://dx.doi.org/10.1002/ajmg.c.30229}, volume = {151C}, year = {2009} }

TY - JOUR ID - citeulike:6073961 L3 - citeulike-article-id:6073961 N2 - Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. (c) 2009 Wiley-Liss, Inc. IS - 4 JF - American journal of medical genetics. Part C, Seminars in medical genetics SN - 1552-4876 EP - 340 TI - Clinical and molecular features of Joubert syndrome and related disorders. VL - 151C SP - 326 KW - ahi1 KW - cep290 KW - jouberts-syndrome KW - mir KW - mirs AU - Parisi, Melissa PY - 2009/10/28/ UR - http://dx.doi.org/10.1002/ajmg.c.30229 ER -