A complex deletion-inversion-deletion event results in a chimeric IL1 RAPL1-dystrophin transcript and a contiguous gene deletion syndrome [2]

Journal of Medical Genetics

Volumn 40, Issue 2, 2003, Pages 127-131

  Wheway, J M ^a   Yau, S C ^b   Nihalani, V ^b   Ellis, D ^b   Irving, M ^b   Splitt, M ^b   Roberts, R G ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHIMERIC PROTEIN; DYSTROPHIN; FLUDROCORTISONE; GLYCEROL KINASE;

CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; EXON; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GLYCEROL KINASE DEFICIENCY; HUMAN; IL1RAPL1 GENE; INBORN ERROR OF METABOLISM; INFANT; LETTER; MALE; PRIORITY JOURNAL; TREATMENT OUTCOME; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; BLINDNESS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; DNA; DYSTROPHIN; FAMILY HEALTH; FEMALE; GENE DELETION; GENE REARRANGEMENT; HUMANS; INFANT, NEWBORN; INTERLEUKIN-1 RECEPTOR ACCESSORY PROTEIN; INVERSION, CHROMOSOME; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; RECEPTORS, INTERLEUKIN-1; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SYNDROME; TRANSCRIPTION, GENETIC;

EID: 0037327040     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (24)

1. Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG. Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. Eur J Hum Genet 2000;8:87-94.
2. Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet 1999;23:25-31.
3. Born TL, Smith DE, Garka KE, Renshaw BR, Bertles JS, Sims JE. Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling. J Biol Chem 2000;275:29946-54.
4. Whittock NV, Roberts RG, Mathew CG, Abbs SJ. Dystrophin point mutation screening using a multiplexed protein truncation test. Genet Test 1997;1:115-23.
5. Greener MJ, Sewry CA, Muntoni F, Roberts RG. The 3′-untranslated region of the dystrophin gene - conservation and consequences of loss. Eur J Hum Genet 2002;10:413-20.
6. 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 Invest 1989;83:95-9.
7. Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT. Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis 2000;23:529-47.
8. McCabe ER, Towbin JA, van den Engh G, Trask BJ. Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. Am J Hum Genet 1992;51:1277-85.
9. Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996;33:550-8.
10. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993;2:1773-8.
11. Wang PJ, McCarrey JR, Yang F, Page DC. An abundance of X-linked genes expressed in spermatogonia. Nat Genet 2001;27:422-6.
12. Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 1989;45:835-47.
13. Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994;372:672-6.
14. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994;372:635-41.
15. Walker AP, Muscatelli F, Monaco AP. Isolation of the human Xp21 glycerol kinase gene by positional cloning. Hum Mol Genet 1993;2:107-14.
16. Guo W, Worley K, Adams V, Mason J, Sylvester-Jackson D, Zhang YH, Towbin JA, Fogt DD, Madu S, Wheeler DA. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nat Genet 1993;4:367-72.
17. Sargent CA, Affara NA, Bentley E, Pelmear A, Bailey DM, Davey P, Dow D, Leversha M, Aplin H, Besley GT. Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue. Hum Mol Genet 1993;2:97-106.
18. Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 1985;316:842-5.
19. Lurquin C, De Smet C, Brasseur F, Muscatelli F, Martelange V, De Plaen E, Brasseur R, Monaco AP, Boon T. Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. Genomics 1997;46:397-408.
20. Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001;28:350-4.
21. Naylor JA, Green PM, Rizza CR, Giannelli F. Factor VIII gene explains all cases of haemophilia A. Lancet 1992;340:1066-7.
22. Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Negrier C, Vinciguerra C. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995;86:2206-12.
23. Li L, Bray PF. Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia. Am J Hum Genet 1993;53:140-9.
24. Niakan KK, Zhang YH, Huang BL, McCabe ER. Complex glycerol kinase deficiency: defining the deletion breakpoints in the original patient described in this contiguous gene syndrome. Am J Hum Genet 2001;69:632.