Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient

Abetalipoproteinemia (ABL), or Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy and acanthocytosis. We report the case of a Tunisian male child born from...

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Main Authors:	Hager Barakizou, Souha Gannouni, Khalil Messaoui, Mathilde Difilippo, Agnès Sassolas, Fethi Bayoudh
Format:	Article
Language:	English
Published:	SpringerOpen 2016-07-01
Series:	Egyptian Journal of Medical Human Genetics
Subjects:	Abetalipoproteinemia apoB-containing lipoproteins Hypocholesterolemia MTP gene mutations
Online Access:	http://www.sciencedirect.com/science/article/pii/S1110863015001263

id	doaj-83b96c1b23fb43e494b888e7d7061a5b
record_format	Article
spelling	doaj-83b96c1b23fb43e494b888e7d7061a5b2020-11-25T01:32:01ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302016-07-0117325125410.1016/j.ejmhg.2015.12.003Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patientHager Barakizou0Souha Gannouni1Khalil Messaoui2Mathilde Difilippo3Agnès Sassolas4Fethi Bayoudh5Department of Pediatrics, Military Hospital of Tunis, TunisiaDepartment of Pediatrics, Military Hospital of Tunis, TunisiaDepartment of Pediatrics, Military Hospital of Tunis, TunisiaCentre de Biologie et Pathologie Est, Laboratoire de biochimie et de biologie moléculaire, CHU de Lyon-GH Est, FranceCentre de Biologie et Pathologie Est, Laboratoire de biochimie et de biologie moléculaire, CHU de Lyon-GH Est, FranceDepartment of Pediatrics, Military Hospital of Tunis, TunisiaAbetalipoproteinemia (ABL), or Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy and acanthocytosis. We report the case of a Tunisian male child born from consanguineous marriage. He presented at the age of 4 months with failure to thrive, greasy stool and vomiting. His clinical phenotype and serum lipid profile suggested the diagnosis of ABL. The MTP gene analysis revealed a novel homozygous mutation [c.2313-2314delinsAA (p.771Tyr>x)]. The parents were heterozygous for the same mutation.http://www.sciencedirect.com/science/article/pii/S1110863015001263AbetalipoproteinemiaapoB-containing lipoproteinsHypocholesterolemiaMTP gene mutations
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Hager Barakizou Souha Gannouni Khalil Messaoui Mathilde Difilippo Agnès Sassolas Fethi Bayoudh
spellingShingle	Hager Barakizou Souha Gannouni Khalil Messaoui Mathilde Difilippo Agnès Sassolas Fethi Bayoudh Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient Egyptian Journal of Medical Human Genetics Abetalipoproteinemia apoB-containing lipoproteins Hypocholesterolemia MTP gene mutations
author_facet	Hager Barakizou Souha Gannouni Khalil Messaoui Mathilde Difilippo Agnès Sassolas Fethi Bayoudh
author_sort	Hager Barakizou
title	Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient
title_short	Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient
title_full	Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient
title_fullStr	Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient
title_full_unstemmed	Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient
title_sort	abetalipoproteinemia: a novel mutation of microsomal triglyceride transfer protein (mtp) gene in a young tunisian patient
publisher	SpringerOpen
series	Egyptian Journal of Medical Human Genetics
issn	1110-8630
publishDate	2016-07-01
description	Abetalipoproteinemia (ABL), or Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy and acanthocytosis. We report the case of a Tunisian male child born from consanguineous marriage. He presented at the age of 4 months with failure to thrive, greasy stool and vomiting. His clinical phenotype and serum lipid profile suggested the diagnosis of ABL. The MTP gene analysis revealed a novel homozygous mutation [c.2313-2314delinsAA (p.771Tyr>x)]. The parents were heterozygous for the same mutation.
topic	Abetalipoproteinemia apoB-containing lipoproteins Hypocholesterolemia MTP gene mutations
url	http://www.sciencedirect.com/science/article/pii/S1110863015001263
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Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient

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