title: A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.
abstract: Cobalamin F (cblF) disorder, caused by homozygous or compound heterozygous mutations in the LMBRD1 gene, is a recognised cause of developmental delay, pancytopaenia and failure to thrive which may present in the neonatal period. A handful of cases have been reported in the medical literature. We report a new case, diagnosed at the age of 6 years through whole exome sequencing, with atypical features including prominent metopic suture, cleft palate, unilateral renal agenesis and liver abnormalities, which broaden the phenotypic spectrum.
authors.affiliation: North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.
authors.forename: Panayiotis
authors.initials: P
authors.lastname: Constantinou
authors.affiliation: North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.
authors.forename: Mariella
authors.initials: M
authors.lastname: D'Alessandro
authors.affiliation: North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.
authors.forename: Paul
authors.initials: P
authors.lastname: Lochhead
authors.affiliation: Molecular Genetics Department, University of Aberdeen, Foresterhill, UK.
authors.forename: Shalaka
authors.initials: S
authors.lastname: Samant
authors.affiliation: Department of Paediatric Gastroenterology, Royal Aberdeen Children's Hospital, Foresterhill, UK.
authors.forename: W Michael
authors.initials: WM
authors.lastname: Bisset
authors.affiliation: Department of Neonatology, Aberdeen Maternity Hospital, Foresterhill, UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Hauptfleisch
authors.affiliation: North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.
authors.forename: John
authors.initials: J
authors.lastname: Dean
keywords: Cobalamin F disorder; LMBRD1 mutation