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Mol Syndromol. 2016 Feb;6(5):254-8. doi: 10.1159/000441134. Epub 2015 Oct 14.

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.

Author information

1
North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.
2
Molecular Genetics Department, University of Aberdeen, Foresterhill, UK.
3
Department of Paediatric Gastroenterology, Royal Aberdeen Children's Hospital, Foresterhill, UK.
4
Department of Neonatology, Aberdeen Maternity Hospital, Foresterhill, UK.

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.

KEYWORDS:

Cobalamin F disorder; LMBRD1 mutation

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