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Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. 2007

Massimo Santoro, and Anna Modoni, and Mario Sabatelli, and Francesca Madia, and Fiorella Piemonte, and Giulia Tozzi, and Enzo Ricci, and Pietro A Tonali, and Gabriella Silvestri
Institute of Neurology, Department of Neuroscience, Catholic University of Sacred Heart, L go A Gemelli 8, Rome, Italy.

We identified a novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease, changing a conserved aspartic acid to glycine at position 494 of the Hex beta-subunit; moreover, RT-PCR showed aberrant exon 12 skipping, causing a frame-shift and premature stop codon, consequent to the disruption of an exonic splicing enhancer motif by the mutation. These data suggest that the c.1556 A>G transition would affect both HEXB mRNA processing and biochemical properties of the beta-subunit.

UI MeSH Term Description Entries
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595 Amino Acid Sequence The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION. Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D001619 beta-N-Acetylhexosaminidases A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease. beta-N-Acetylhexosaminidase,N-Acetyl-beta-D-hexosaminidase,beta-Hexosaminidase,beta-N-Acetyl-D-hexosaminidase,beta-N-Acetyl-hexosaminidase,N Acetyl beta D hexosaminidase,beta Hexosaminidase,beta N Acetyl D hexosaminidase,beta N Acetyl hexosaminidase,beta N Acetylhexosaminidase,beta N Acetylhexosaminidases
D012333 RNA, Messenger RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. Messenger RNA,Messenger RNA, Polyadenylated,Poly(A) Tail,Poly(A)+ RNA,Poly(A)+ mRNA,RNA, Messenger, Polyadenylated,RNA, Polyadenylated,mRNA,mRNA, Non-Polyadenylated,mRNA, Polyadenylated,Non-Polyadenylated mRNA,Poly(A) RNA,Polyadenylated mRNA,Non Polyadenylated mRNA,Polyadenylated Messenger RNA,Polyadenylated RNA,RNA, Polyadenylated Messenger,mRNA, Non Polyadenylated
D012497 Sandhoff Disease An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. G(M2) Gangliosidosis, Type II,Gangliosidosis G(M2), Type II,Hexosaminidase A and B Deficiency Disease,Adult Sandhoff Disease,Deficiency Disease, Hexosaminidase A and B,GM2 Gangliosidosis, Type 2,GM2 Gangliosidosis, Type II,GM2-Gangliosidosis, Type II,Gangliosidosis GM2, Type II,Hexosaminidases A And B Deficiency,Infantile Sandhoff Disease,Juvenile Sandhoff Disease,Sandhoff Disease, Adult,Sandhoff Disease, Adult Type,Sandhoff Disease, Infantile,Sandhoff Disease, Infantile Type,Sandhoff Disease, Juvenile,Sandhoff Disease, Juvenile Type,Sandhoff's Disease,Sandhoff-Jatzkewitz-Pilz Disease,Total Hexosaminidase Deficiency,beta-Hexosaminidase-beta-Subunit Deficiency,Deficiency, Total Hexosaminidase,Deficiency, beta-Hexosaminidase-beta-Subunit,Disease, Sandhoff-Jatzkewitz-Pilz,GM2-Gangliosidoses, Type II,Hexosaminidase Deficiency, Total,Sandhoff Jatzkewitz Pilz Disease,Sandhoffs Disease,Total Hexosaminidase Deficiencies,Type II GM2-Gangliosidoses,Type II GM2-Gangliosidosis,beta Hexosaminidase beta Subunit Deficiency,beta-Hexosaminidase-beta-Subunit Deficiencies

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