Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient
| Autor: | Khalil Messaoui, Hager Barakizou, Agnès Sassolas, Mathilde Difilippo, Souha Gannouni, Fethi Bayoudh |
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| Jazyk: | angličtina |
| Předmět: |
0301 basic medicine
medicine.medical_specialty lcsh:QH426-470 apoB-containing lipoproteins Gene mutation Microsomal triglyceride transfer protein 03 medical and health sciences 0302 clinical medicine Internal medicine Retinitis pigmentosa medicine Genetics(clinical) Hypocholesterolemia Genetics (clinical) MTP gene mutations Genetics lcsh:R5-920 ABL biology Abetalipoproteinemia medicine.disease Fat malabsorption lcsh:Genetics 030104 developmental biology Endocrinology 030220 oncology & carcinogenesis Failure to thrive biology.protein medicine.symptom lcsh:Medicine (General) |
| Zdroj: | Egyptian Journal of Medical Human Genetics; Vol 17, No 3 (2016); 251–254 Egyptian Journal of Medical Human Genetics, Vol 17, Iss 3, Pp 251-254 (2016) |
| ISSN: | 1110-8630 |
| DOI: | 10.1016/j.ejmhg.2015.12.003 |
| Popis: | 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. Keywords: Abetalipoproteinemia; apoB-containing lipoproteins; Hypocholesterolemia; MTP gene mutations |
| Databáze: | OpenAIRE |
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