Description:
HYPERGLYCEROLEMIA
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
GeT-RM Samples
dbGaP |
| Class |
Disorders of Steroid Metabolism |
| 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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White
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Country of Origin
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USA
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Family Member
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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,X,dup(Y)(q11.223q12).arr[hg19]Xp21.2(30834539-31190951)x0,Xp21.2(30411468-30805117)x0,Xp21.2(29923798-30405375)x0,Yq11.22q11.23(25510875-28670303)x2
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX72-79DEL |
| Remarks |
Clinically affected; onset of symptoms at birth; maternal hypothyroidism and goiter in early pregnancy; lethargic infant who fed poorly and did not have social smile until 5 months of age; slow psychomotor development (crawled at 12 months, walked unassisted at 20 months, spoke a few words at 3 years of age); at 21 months of age, generalized osteoporosis was noted, as well as several silent fractures of both femurs and left tibia, and compression fractures of several low thoracic vertebral bodies; at 30 months of age a formal developmental and pediatric evaluation revealed: weight and head circumference less than 3rd percentile, height declined from 35th percentile to 3rd percentile, non-paralytic esotropia, hypertonia with brisk reflexes, developmental level between 8 and 13 months of age; evaluation at 42 months of age: small but proportionate child with pinched face, flexed, tapering fingers, thin semi-translucent skin, generalized, moderately severe spasticity (more pronounced in lower extremities) developmentally functioning at the 12-16 month level; biochemical test results: hyperglycerolemia (24-72 mg/dl); glyceroluria (378-2628 mg/dl); elevated serum creatine phosphokinase levels (238-6006 IU/L, with majority falling between 1500-3500 IU/L); glycerol kinase activity is less than 5 percent of control values (PMID:6249182); genetic test results: donor subject has a deletion of exons 72-79 in the dystrophin gene as determined by multiplex PCR (PMID 21354051); PCR and Southern Blot analysis confirm deletion with telomeric breakpoint between DXS28(C7) and DXS68(YHX39) and a centromeric breakpoint within region covered by DMD cDNA 11hc(63-1,1.05kb); family history includes: affected brother with similar symptoms (deceased at 33 months of age, sample not in repository) and maternal uncle (diagnosed with cerebral palsy, small stature, developmentally retarded, and died following a “flu-like” illness at age 5, sample not in repository). |
| 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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| Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L, Quality assurance for duchenne and becker muscular dystrophy genetic testing development of a genomic DNA reference material panel The Journal of molecular diagnostics : JMD13:167-74 2010 |
| PubMed ID: 21354051 |
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| Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG, Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet36(4):411-6 2004 |
| PubMed ID: 15004558 |
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| McCabe ER, Towbin J, Chamberlain J, Baumbach L, Witkowski J, van Ommen GJ, Koenig M, Kunkel LM, Seltzer WK, Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. J Clin Invest83:95-9 1989 |
| PubMed ID: 2536049 |
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| Bartley JA, Miller DK, Hayford JT, McCabe ER, Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. Lancet2:733-736 1982 |
| PubMed ID: 6125810 |
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| McCabe ER, Sadava D, Bullen WW, McKelvey HA, Seltzer WK, Rose CI, Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization. J Inherit Metab Dis5:177-82 1982 |
| PubMed ID: 6302392 |
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| Guggenheim MA, McCabe ER, Roig M, Goodman SI, Lum GM, Bullen WW, Ringel SP, Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol7:441-9 1980 |
| PubMed ID: 6249182 |
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| McCabe ER, Fennessey PV, Guggenheim MA, Miles BS, Bullen WW, Sceats DJ, Goodman SI, Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun78:1327-33 1977 |
| PubMed ID: 200232 |
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