Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities

Anderson’s disease (AD) or chylomicron retention disease (CMRD) is a rare hereditary lipid malabsorption syndrome linked to SARA2 gene mutations. We report in this study a novel mutation in two sisters for which the Sar1b protein is predicted to be truncated by 32 amino acids at its carboxyl‐terminu...

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Bibliographic Details
Published in:Clinical genetics 2008-12, Vol.74 (6), p.546-552
Main Authors: Silvain, M, Bligny, D, Aparicio, T, Laforêt, P, Grodet, A, Peretti, N, Ménard, D, Djouadi, F, Jardel, C, Bégué, JM, Walker, F, Schmitz, J, Lachaux, A, Aggerbeck, LP, Samson-Bouma, ME
Format: Article
Language:English
Subjects:
Adolescent
Adult
Amino acids
Biological and medical sciences
Female
Fundamental and applied biological sciences. Psychology
Gastroenterology. Liver. Pancreas. Abdomen
General aspects. Genetic counseling
genetic
Genetic disorders
Genetics of eukaryotes. Biological and molecular evolution
Heart Defects, Congenital - etiology
human
Humans
intestine
lipid malabsorption syndrome
Lipids
Malabsorption Syndromes - complications
Malabsorption Syndromes - genetics
Male
Medical genetics
Medical sciences
Molecular and cellular biology
Monomeric GTP-Binding Proteins - genetics
Muscles - abnormalities
Muscles - pathology
Mutation
Other diseases. Semiology
Siblings
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Young Adult
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Summary:Anderson’s disease (AD) or chylomicron retention disease (CMRD) is a rare hereditary lipid malabsorption syndrome linked to SARA2 gene mutations. We report in this study a novel mutation in two sisters for which the Sar1b protein is predicted to be truncated by 32 amino acids at its carboxyl‐terminus. Because the SARA2 gene is also expressed in the muscle, heart, liver and placenta, extraintestinal clinical manifestations may exist. For the first time, we describe in this study in the two sisters muscular as well as cardiac abnormalities that could be related to the reported expression of SARA2 in these tissues. We also evaluated six other patients for potential manifestations of the SARA2 mutation. The creatine phosphokinase levels were increased in all patients [1.5–9.4 ×normal (N)] and transaminases were moderately elevated in five of the eight patients (1.2–2.6 × N), probably related to muscle disease rather than to liver dysfunction. A decreased ejection fraction occurred in one patient (40%, N: 60%). The muscle, liver and placental tissues that were examined had no specific abnormalities and, in particular, no lipid accumulation. These results suggest that myolysis and other extraintestinal abnormalities can occur in AD/CMRD and that the clinical evaluation of patients should reflect this.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2008.01069.x