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

Research output: Contribution to journalArticle

1 Citation (Scopus)
6 Downloads (Pure)

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.
Original languageEnglish
Pages (from-to)254-258
Number of pages5
JournalMolecular Syndromology
Volume6
Early online date14 Oct 2015
DOIs
Publication statusPublished - 2015

Fingerprint

Exome
Failure to Thrive
Cleft Palate
Vitamin B 12
Liver
Sutures
Genes
Mutation
Hereditary renal agenesis

Keywords

  • 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

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing. / Constantinou, Panayiotis; Lochhead, Paul; D'Allesandro, Mariella; Samant, Shalaka; Deciphering Developmental Disorders Study ; Dean, John; Hauptfleisch, Catherine.

In: Molecular Syndromology, Vol. 6, 2015, p. 254-258 .

Research output: Contribution to journalArticle

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, vol. 6, pp. 254-258 . https://doi.org/10.1159/000441134
Constantinou P, Lochhead P, D'Allesandro M, Samant S, Deciphering Developmental Disorders Study, Dean J et al. A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing. Molecular Syndromology. 2015;6:254-258 . https://doi.org/10.1159/000441134
Constantinou, Panayiotis ; Lochhead, Paul ; D'Allesandro, Mariella ; Samant, Shalaka ; Deciphering Developmental Disorders Study ; Dean, John ; Hauptfleisch, Catherine. / A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing. In: Molecular Syndromology. 2015 ; Vol. 6. pp. 254-258 .
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