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Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. 1995

Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomotor disturbances. The Batten disease gene, CLN3, maps to chromosome 16p12.1. The so-called 56 chromosome haplotype defined by alleles at the D16S299 and D16S298 loci is shared by 73% of Batten disease chromosomes. Exon amplification of a cosmid containing D16S298 has yielded a candidate gene that is disrupted by a 1 kb genomic deletion in all patients carrying the 56 chromosome. Two separate deletions and a point mutation altering a splice site in three unrelated families have confirmed the candidate as the CLN3 gene. The disease gene encodes a novel 438 amino acid protein of unknown function.

UI MeSH Term Description Entries
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
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009472 Neuronal Ceroid-Lipofuscinoses A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. Batten Disease,Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant,Ceroid-Lipofuscinosis, Neuronal,Jansky-Bielschowsky Disease,Kufs Disease,Santavuori-Haltia Disease,Spielmeyer-Vogt Disease,Adult Neuronal Ceroid Lipofuscinosis,Amaurotic Idiocy, Adult Type,Batten-Mayou Disease,Batten-Spielmeyer-Vogt Disease,CLN3-Related Neuronal Ceroid-Lipofuscinosis,CLN4A,CLN4B,Ceroid Lipofuscinosis, Neuronal 3, Juvenile,Ceroid Lipofuscinosis, Neuronal 4,Ceroid Lipofuscinosis, Neuronal, 3,Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive,Ceroid Lipofuscinosis, Neuronal, Parry Type,Ceroid Storage Disease,Infantile Neuronal Ceroid Lipofuscinosis,Juvenile Batten Disease,Juvenile Cerebroretinal Degeneration,Juvenile Neuronal Ceroid Lipofuscinosis,Kuf's Disease,Kufs Disease Autosomal Recessive,Kufs Disease, Autosomal Dominant,Kufs Disease, Autosomal Recessive,Kufs Type Neuronal Ceroid Lipofuscinosis,Late-Infantile Neuronal Ceroid Lipofuscinosis,Lipofuscin Storage Disease,Lipofuscinosis, Neuronal Ceroid,Neuronal Ceroid Lipofuscinosis,Neuronal Ceroid Lipofuscinosis Juvenile Type,Neuronal Ceroid Lipofuscinosis, Adult,Neuronal Ceroid Lipofuscinosis, Adult Type,Neuronal Ceroid Lipofuscinosis, Infantile,Neuronal Ceroid Lipofuscinosis, Juvenile,Neuronal Ceroid Lipofuscinosis, Late Infantile,Neuronal Ceroid Lipofuscinosis, Late-Infantile,Neuronal Ceroid-Lipofuscinosis,Spielmeyer-Sjogren Disease,Vogt Spielmeyer Disease,Vogt-Spielmeyer Disease,Batten Disease, Juvenile,Batten Diseases, Juvenile,Batten Mayou Disease,Batten Spielmeyer Vogt Disease,CLN3 Related Neuronal Ceroid Lipofuscinosis,CLN3-Related Neuronal Ceroid-Lipofuscinoses,CLN4As,Cerebroretinal Degeneration, Juvenile,Cerebroretinal Degenerations, Juvenile,Ceroid Lipofuscinosis, Neuronal,Ceroid Storage Diseases,Ceroid-Lipofuscinosis, CLN3-Related Neuronal,Disease, Ceroid Storage,Disease, Juvenile Batten,Disease, Kuf's,Disease, Lipofuscin Storage,Disease, Spielmeyer-Sjogren,Disease, Vogt Spielmeyer,Disease, Vogt-Spielmeyer,Jansky Bielschowsky Disease,Juvenile Batten Diseases,Juvenile Cerebroretinal Degenerations,Kuf Disease,Lipofuscin Storage Diseases,Neuronal Ceroid Lipofuscinoses,Neuronal Ceroid-Lipofuscinoses, CLN3-Related,Neuronal Ceroid-Lipofuscinosis, CLN3-Related,Santavuori Haltia Disease,Spielmeyer Disease, Vogt,Spielmeyer Sjogren Disease,Spielmeyer Vogt Disease,Storage Disease, Ceroid,Storage Disease, Lipofuscin
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D003360 Cosmids Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles. Cosmid
D005260 Female Females
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
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

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