Description:
HYPERGLYCEROLEMIA
GLYCEROL KINASE; GK
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XY,der(10)t(10;15)(p15;q22.3)[23]/46,XY[2].ish der(10)t(10;15)(p15;q22.3)(PML+,SNRPN-,D15Z1-,D10S2488+,D10S2490+).arr 4q31.21(144842637-144943597)x1,15q22.31q26.3(64956825-102459244)x3
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
GK |
| Chromosomal Location |
Xp21.3-p21.2 |
| Allelic Variant 1 |
300474.0007; GLYCEROL KINASE DEFICIENCY, ISOLATED |
| Identified Mutation |
IVS4-52ins316alu; Zhang et al. (2000) reported the case of a male with benign isolated glycerol kinase deficiency (307030) who was incidentally identified after observation of pseudohypertriglyceridemia at the age of 36 years. DNA sequencing of the GK gene showed insertion of an AluY sequence in intron 4 (IVS4-52ins316alu) of the glycerol kinase gene. Although Alu insertions had been implicated in other disorders, and a closely related AluY element had been found as an insert in the C1 inhibitor gene (606860) in patients with hereditary angioedema (106100), this was the first case of glycerol kinase deficiency caused by an Alu insertion |
| Remarks |
Affected; Alu Y insertion (IVS4-52ins 316Alu) in the GK gene resulting in a deletion of exon 5; in coma; normal genitalia. |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM, Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA Pediatric research59:590-2 2006 |
| PubMed ID: 16549535 |
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| Zhang Y, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ER, AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency Human mutation15:316-23 2000 |
| PubMed ID: 10737976 |
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