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

Panayiotis Constantinou, Paul Lochhead, Mariella D'Allesandro, Shalaka Samant, Deciphering Developmental Disorders Study, John Dean, Catherine Hauptfleisch

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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.
Original languageEnglish
Pages (from-to)254-258
Number of pages5
JournalMolecular Syndromology
Early online date14 Oct 2015
Publication statusPublished - 2015



  • Cobalamin F disorder
  • LMBRD1 mutation

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Constantinou, P., Lochhead, P., D'Allesandro, M., Samant, S., Deciphering Developmental Disorders Study, Dean, J., & Hauptfleisch, C. (2015). A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing. Molecular Syndromology, 6, 254-258 . https://doi.org/10.1159/000441134