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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9 Citations (Scopus)
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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

Bibliographical note

The Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership
between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.


  • Cobalamin F disorder
  • LMBRD1 mutation


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