Fine-Mapping Of 1p36 Deletion, Related To The Manifestation Of Hirsutism

Fine-Mapping Of 1p36 Deletion, Related To The Manifestation Of Hirsutism

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Author(s)

Author(s): Ivanka Dimova, Nikolova D., Nesheva D.

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603 1173 43-48 Volume 2 - Feb 2013

Abstract

Rearrangements of 1p36 resulting in deletion are observed in 1 in 5,000 live births. Molecular characterisation of deletions, along with phenotypic correlations, have yielded regions in which to search for genes related to specific features of the syndrome.We report a child with sub-telomeric interstitial 1p36 deletion, spanning 3,683,364-8,822,150 bp (1p36.33-1p36.23) region. The capability of aCGH to provide high-resolution mapping of variation in copy number has been demonstrated. Determining the smallest region of overlap, we narrowed the common region between cases with hirsutism on chromosome 1 band 1p36.23 between 7,500,000 and 8,500,000 bp. Since our patient has overlapped symptom of hirsutism with the patients of proximal 1p36 deletion syndrome, we therefore searched the database to identify potential candidate genes for this feature. We suggest a new candidate-gene for hirsutism – PARK7, which is related to the function of androgens and hyperandrogenaemia. The suggestion is based on the location of this gene in the narrowed deleted 1p36.23 region in patients, affected by hirsutism together with other features of 1p36 monosomy syndrome.

Keywords

mental retardation, array CGH, 1p36 deletion, hirsutism

References

  1. Shaffer and Lupski, 2000 Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34:297–329
  2. Keppler-Noreuil KM, Carroll AJ, Finley WH, Rutledge SL. 1995. Chromosome 1p terminal deletion: Report of new findings and confirmation of two characteristic phenotypes. J Med Genet 32:619–622
  3. Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y. 2005. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. Brain Dev 27: 378–382
  4. Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. 1999. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Genet 82:249–253
  5. Shaffer LG. 2005. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med 7:650–654
  6. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478–489
  7. Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. 2003b. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 72:1200–1212
  8. Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. 2003. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 wellcharacterized 1p36 deletions. Hum MolGenet 12:2145–2152
  9. Bejjani BA, Shaffer LG. 2006. Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn 8:528–533
  10. Orsetti B, Nugoli M, Cervera N, Lasorsa L, Chuchana P, Ursule L, Nguyen C, Redon R, du Manoir S, Rodriguez C, and Theillet Ch. Genomic and expression profiling of chromosome 17 in breast cancer reveals complex patterns of alterations and novel candidate genes. Cancer Res 2004; 64: 6453-6460
  11. Gorringe KL, Boussioutas A, Bowtell DD. Novel regions of chromosomal amplification at 6p21, 5p13, and 12q14 in gastric cancer identified by array comparative genomic hybridization. Genes Chromosomes Cancer 2005, 42: 247-59
  12. Rossi MR, Gaile D, Laduca J, Matsui S, Conroy J, McQuaid D, Chervinsky D, Eddy R, Chen HS, Barnett GH, Nowak NJ, Cowell JK. Identification of consistent novel submegabase deletions in low-grade oligodendriomas using array-based comparative genomic hybridization. Genes Chromosomes Cancer 2005, 44: 85-96
  13. Wu Y, Heilstedt H, Bedell J et al. Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum Mol Genet 1999: 8: 313–321
  14. Kang S-HL, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet 2007: 72: 329–338
  15. Redon R, Rio M, Gregory SG et al. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or ‘‘deletion with positional effect’’ syndrome? J Med Genet 2005: 42: 166–171
  16. Shapira SK, McCaskill C, Northrup H et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997: 61: 642–650
  17. Gajecka M, Mackay KL, Shaffer LG. 2007. Monosomy 1p36 deletion syndrome. Am J Med Genet Part C Semin Med Genet 145C:346–356
  18. Marcondes JA. Hirsutism: differential diagnosis Arq Bras Endocrinol Metabol. 2006 Dec;50(6):1108-16
  19. Unluhizarci K, Gokce C, Atmaca H, Bayram F, Kelestimur F. A detailed investigation of hirsutism in a Turkish population: idiopathic hyperandrogenemia as a perplexing issue. Exp Clin Endocrinol Diabetes. 2004 Oct;112(9):504-9

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International Journal of Sciences is Open Access Journal.
This article is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) License.
Author(s) retain the copyrights of this article, though, publication rights are with Alkhaer Publications.

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