Ontology highlight
ABSTRACT:
SUBMITTER: Shaheen R
PROVIDER: S-EPMC6451727 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Shaheen Ranad R Jiang Nan N Alzahrani Fatema F Ewida Nour N Al-Sheddi Tarfa T Alobeid Eman E Musaev Damir D Stanley Valentina V Hashem Mais M Ibrahim Niema N Abdulwahab Firdous F Alshenqiti Abduljabbar A Sonmez Fatma Mujgan FM Saqati Nadia N Alzaidan Hamad H Al-Qattan Mohammad M MM Al-Mohanna Futwan F Gleeson Joseph G JG Alkuraya Fowzan S FS
American journal of human genetics 20190321 4
Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, oculomotor apraxia, polydactyly, and subtle posterior fossa abnormalities) to a single locus in which a founder homozygous truncating variant in FAM149B1 was identified by exome sequencing. We subsequently identified a ...[more]