SP015COMPOUND HETEROZYGOUS MUTATIONS IN AMNIONLESS CAUSE IMERSLUND-GRÄSBECK SYNDROME IN TWO HALF-SISTERS
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چکیده
منابع مشابه
Vit. 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 کاملSelective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund‐Gräsbeck Syndrome) in Juvenile Beagles
BACKGROUND Selective intestinal cobalamin malabsorption with mild proteinuria (Imerslund-Gräsbeck syndrome; I-GS), is an autosomal recessive disorder of dogs caused by mutations in AMN or CUBN that disrupt cubam function and which can present as a medical emergency. OBJECTIVES To describe the clinical, metabolic, and genetic bases of I-GS in Beagles. ANIMALS Four cobalamin-deficient and 43 ...
متن کاملDLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.
1. Snape KM, Ruddy D, Zenker M et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009: 149A (8): 1860–1881. 2. Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012: 91 (2): 391–395. 3. Southgate L, Sukalo M, Karountzos AS et al. Haploinsufficie...
متن کاملAncient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
BACKGROUND Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Mutations in the two genes are commonly seen in founder populations or in societies with a high degree...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2015
ISSN: 1460-2385,0931-0509
DOI: 10.1093/ndt/gfv187.15