Ontology highlight
ABSTRACT:
SUBMITTER: Searle C
PROVIDER: S-EPMC3755559 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Searle Claire C Andresen Brage Storstein BS Wraith Ed E Higgs Jamie J Gray Deborah D Mills Alison A Allen K Elizabeth KE Hobson Emma E
JIMD reports 20130402
We report of a family who has three members affected by medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, one of whom sadly died in the neonatal period prior to diagnosis. Routine sequencing, available on a service basis in the UK, identified only a heterozygous mutation in ACADM gene (c.985A>G, p.Lys329Glu) in this family. Linkage analysis suggested a possible intragenic deletion which was confirmed by the use of array-based comparative genomic hybridization (aCGH). This second mutation wa ...[more]