Literature DB >> 16904924

Molecular analysis in two beta-mannosidosis patients: description of a new adult case.

Laura Gort1, Joana Duque, José M Fabeiro, Ander Zulaica, Maria Josep Coll, Amparo Chabás.   

Abstract

beta-Mannosidosis is a lysosomal storage disorder caused by deficiency of beta-mannosidase. Thirteen families with cases of beta-mannosidosis have been described including one case previously reported by our group. We present clinical and biochemical data in a new adult case, and the molecular analyses in both this new case and the one previously reported. We detected four novel mutations: p.R182W, p.G392E, p.W466X and c.1848delA. Discrepancies between genomic DNA and cDNA results when detecting this last deletion suggested a nonsense-mediated decay cell process (NMD).

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Year:  2006        PMID： 16904924     DOI： 10.1016/j.ymgme.2006.07.001

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  8 in total

1.  Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization.

Authors:  Pompei Bolfa; Ping Wang; Rajeev Nair; Sreekumari Rajeev; Anibal G Armien; Paula S Henthorn; Tim Wood; Mary Anna Thrall; Urs Giger
Journal:  Mol Genet Metab       Date:  2019-08-10       Impact factor: 4.797

2.  A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus.

Authors:  A Broomfield; R Gunny; I Ali; A Vellodi; P Prabhakar
Journal:  JIMD Rep       Date:  2013-04-16

3.  A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.

Authors:  Thi Huynh; Javed Mohammed Khan; Shoba Ranganathan
Journal:  BMC Genomics       Date:  2011-11-30       Impact factor: 3.969

4.  β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

Authors:  Maria Blomqvist; Marie Falkenberg Smeland; Julia Lindgren; Per Sikora; Hilde Monica Frostad Riise Stensland; Jorge Asin-Cayuela
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-06-03

5.  Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.

Authors:  Troy C Lund; Weston P Miller; Julie B Eisengart; Katrina Simmons; Laura Pollard; Deborah L Renaud; David A Wenger; Marc C Patterson; Paul J Orchard
Journal:  Mol Genet Genomic Med       Date:  2019-05-21       Impact factor: 2.183

6.  Oral manifestation and dental treatment of pediatric patient with beta-mannosidosis: A case report.

Authors:  Mohammad A Alshoraim; Dania E Al Agili
Journal:  SAGE Open Med Case Rep       Date:  2021-12-15

7.  A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

Authors:  Frédérique Sabourdy; Pierre Labauge; Hilde Monica Frostad Riise Stensland; Michèle Nieto; Violeta Latorre Garcés; Dimitri Renard; Giovanni Castelnovo; Nicolas de Champfleur; Thierry Levade
Journal:  BMC Med Genet       Date:  2009-09-03       Impact factor: 2.103

8.  Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.

Authors:  Dana Safka Brozkova; Lukas Varga; Anna Uhrova Meszarosova; Zuzana Slobodova; Martina Skopkova; Andrea Soltysova; Andrej Ficek; Jan Jencik; Jana Lastuvkova; Daniela Gasperikova; Pavel Seeman
Journal:  Orphanet J Rare Dis       Date:  2020-08-26       Impact factor: 4.123
  8 in total

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