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

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 rep...

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Autores principales: Constantinou, Panayiotis, D'Alessandro, Mariella, Lochhead, Paul, Samant, Shalaka, Bisset, W. Michael, Hauptfleisch, Catherine, Dean, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2016
Materias:
Novel Insights from Clinical Practice
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772619/
https://www.ncbi.nlm.nih.gov/pubmed/26997947
http://dx.doi.org/10.1159/000441134
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author Constantinou, Panayiotis
D'Alessandro, Mariella
Lochhead, Paul
Samant, Shalaka
Bisset, W. Michael
Hauptfleisch, Catherine
Dean, John
author_facet Constantinou, Panayiotis
D'Alessandro, Mariella
Lochhead, Paul
Samant, Shalaka
Bisset, W. Michael
Hauptfleisch, Catherine
Dean, John
author_sort Constantinou, Panayiotis
collection PubMed
description 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.
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spelling pubmed-47726192016-05-31 A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing Constantinou, Panayiotis D'Alessandro, Mariella Lochhead, Paul Samant, Shalaka Bisset, W. Michael Hauptfleisch, Catherine Dean, John Mol Syndromol Novel Insights from Clinical Practice 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. S. Karger AG 2016-02 2015-10-14 /pmc/articles/PMC4772619/ /pubmed/26997947 http://dx.doi.org/10.1159/000441134 Text en Copyright © 2015 by S. Karger AG, Basel http://creativecommons.org/licenses/by/4.0/ This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY) (http://www.karger.com/Services/OpenAccessLicense). Usage, derivative works and distribution are permitted provided that proper credit is given to the author and the original publisher.
spellingShingle Novel Insights from Clinical Practice
Constantinou, Panayiotis
D'Alessandro, Mariella
Lochhead, Paul
Samant, Shalaka
Bisset, W. Michael
Hauptfleisch, Catherine
Dean, John
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
title A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
title_full A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
title_fullStr A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
title_full_unstemmed A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
title_short A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
title_sort new, atypical case of cobalamin f disorder diagnosed by whole exome sequencing
topic Novel Insights from Clinical Practice
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772619/
https://www.ncbi.nlm.nih.gov/pubmed/26997947
http://dx.doi.org/10.1159/000441134
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