NA02529
DNA from Amniotic fluid-derived cell line
Description:
MUCOLIPIDOSIS IV
MUCOLIPIN 1; MCOLN1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Amniotic fluid
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Cell Type
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Amniotic fluid-derived cell line
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Transformant
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Untransformed
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Sample Source
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DNA from Amniotic fluid-derived cell line
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Race
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White
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Ethnicity
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ASHKENAZI
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Family Member
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2
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
19 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Gene |
MCOLN1 |
| Chromosomal Location |
19p13.3-p13.2 |
| Allelic Variant 1 |
605248.0002; MUCOLIPIDOSIS IV |
| Identified Mutation |
6,450-BP DEL; In 1 of 21 Ashkenazi Jewish patients with mucolipidosis IV (252650) associated with the minor founder haplotype defined by Slaugenhaupt et al. (Am J Hum Genet 65:773-778, 1999), Bargal et al. (Nat Genet 26:118-121, 2000) identified a homozygous 6,450-bp deletion in the MCOLN1 gene. The deletion spanned a region from 928 bp upstream from the first exon of MCOLN1 to bp 31 of exon 7 (del EX1-EX7). |
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| Gene |
MCOLN1 |
| Chromosomal Location |
19p13.3-p13.2 |
| Allelic Variant 2 |
605248.0001; MUCOLIPIDOSIS IV |
| Identified Mutation |
IVS3AS,A>G,-2; In 12 of 21 Ashkenazi Jewish patients with mucolipidosis IV (252650) associated with the major Ashkenazi founder haplotype defined by Slaugenhaupt et al. (Am J Hum Genet 65:773-778, 1999), Bargal et al. (Nat Genet 26:118-121, 2000) identified a homozygous A-to-G transition in the acceptor splice site of the third intron of the MCOLN1 gene. One heterozygote was found among 60 Ashkenazi normal controls; this was consistent with the estimated frequency of heterozygotes (1/50) in this population. Bassi et al. (Am J Hum Genet 67:1110-1120, 2000) identified this acceptor splice site mutation, which they designated 486-2A-G, as the major founder mutation in Ashkenazi Jewish patients. The mutation disrupted the GT-AG rule of splicing and resulted in a transcript lacking 165 bp, because of the skipping of exon 4. This caused a frameshift leading to a premature translation termination 374 bp downstream. The predicted truncated protein retained only the first 21 amino acids of the wildtype protein. |
| Remarks |
Ashkenazi; abnormal cytoplasmic lysosomal storage bodies; affected sib is GM02048 Fibroblast and GM02533A Lymphoid; 46,XX; 8% of cells show random chromosome loss |
| Edelmann L, Dong J, Desnick RJ, Kornreich R, Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet70(4):1023-7 2002 |
| PubMed ID: 11845410 |
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| Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G, Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet67(5):1110-20 2000 |
| PubMed ID: 11013137 |
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| Kohn G, Livni N, Ornoy A, Sekeles E, Beyth Y, Legum C, Bach G, Cohen MM, Prenatal diagnosis of mucolipidosis IV by electron microscopy. J Pediatr90:62-6 1977 |
| PubMed ID: 830895 |
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