Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report
نویسندگان
چکیده
منابع مشابه
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN
Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin and usually results in megaloblastic anemia appearing in childhood. It is responsive to parenteral vitamin B12 therapy.The estimated prevalence (calculated based on Scandinavian data) is less than 6:1,000,000. However, many cases may be misdia...
متن کاملImerslund-Grasbeck Syndrome: A Case Report
Introduction: Megaloblasc anemia is an uncommon problem in childhood most frequently associated with vitamin deficiency or gastrointesnal disease. The common causes of megaloblasc anemia are vitamin B12 (cobalamin) deficiency and folic acid deficiency. Familial selecve malabsorpon of vitamin B12 associated with proteinuria firstly was described by Imerslund (1960) and Grasbeck et al (1960)...
متن کاملLuminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.
Juvenile megaloblastic anaemia 1 (OMIM # 261100) is a rare autosomic disorder characterized by selective cobalamin mal-absorption and inconstant proteinuria produced by mutations in either CUBN or AMN genes. Amnionless, the gene product of AMN, is a transmembrane protein that binds tightly to the N-terminal end of cubilin, the gene product of CUBN. Cubilin binds to intrinsic factor-cobalamin co...
متن کاملVit. B12 Deficiency in Children (imerslund-gräsbeck Syndrome in Two Pairs of Siblings).
UNLABELLED Improvement in the quality of life in Europe and North America in last decades caused that economical and social aspects of living conditions of the population have less effect and genetic defects of malabsorption of vitamin B12 became the main reason for cobalamin deficiency in children. Imerslund-Grasbeck syndrome (IGS) is characterized by vitamin B12 deficiency that leads usually ...
متن کاملImerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria)
Imerslund-Gräsbeck syndrome (IGS) or selective vitamin B(12) (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B(12) deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B(12) therapy and appears in childhood. Other manifestations include failure to thrive and grow, infections and neurological d...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2015
ISSN: 1471-2350
DOI: 10.1186/s12881-015-0181-2