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

doi:10.1159/000441134

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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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 language	English
Pages (from-to)	254-258
Number of pages	5
Journal	Molecular Syndromology
Volume	6
Early online date	14 Oct 2015
DOIs	https://doi.org/10.1159/000441134
Publication status	Published - 2015

Keywords

Cobalamin F disorder
LMBRD1 mutation

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10.1159/000441134Licence: CC BY

A new atypical case of cobalamin F disorder diagnosed by whole exome sequencing
© 2015 The Author(s) Published by S. Karger AG, Basel 1661–8769/15/0065–0254$0/0 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. https://creativecommons.org/licenses/by/4.0/
Final published version, 434 KBLicence: CC BY

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

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",

author = "Panayiotis Constantinou and Paul Lochhead and Mariella D'Allesandro and Shalaka Samant and {Deciphering Developmental Disorders Study} and John Dean and Catherine Hauptfleisch",

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. ",

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doi = "10.1159/000441134",

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journal = "Molecular Syndromology",

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AU - Constantinou, Panayiotis

AU - Lochhead, Paul

AU - D'Allesandro, Mariella

AU - Samant, Shalaka

AU - Deciphering Developmental Disorders Study

AU - Dean, John

AU - Hauptfleisch, Catherine

N1 - 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.

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

KW - Cobalamin F disorder

KW - LMBRD1 mutation

U2 - 10.1159/000441134

DO - 10.1159/000441134

M3 - Article

VL - 6

SP - 254

EP - 258

JO - Molecular Syndromology

JF - Molecular Syndromology

ER -

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

Abstract

Keywords

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