Ontology highlight
ABSTRACT:
SUBMITTER: Strauss KA
PROVIDER: S-EPMC4289676 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Strauss Kevin A KA Jinks Robert N RN Puffenberger Erik G EG Venkatesh Sundararajan S Singh Kamalendra K Cheng Iteen I Mikita Natalie N Thilagavathi Jayapalraja J Lee Jae J Sarafianos Stefan S Benkert Abigail A Koehler Alanna A Zhu Anni A Trovillion Victoria V McGlincy Madeleine M Morlet Thierry T Deardorff Matthew M Innes A Micheil AM Prasad Chitra C Chudley Albert E AE Lee Irene Nga Wing IN Suzuki Carolyn K CK
American journal of human genetics 20150101 1
CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygous combinations among ten individuals with CODAS syndrome. The individuals come from three different ancestral backgrounds (Amish-Swiss from United States, n = 8; Mennonite-German from Canada, n = 1; mixed European from Canada, n = 1). LONP1 en ...[more]