Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)

American Journal of Medical Genetics, Part A

Volumn 146, Issue 24, 2008, Pages 3211-3216

  Shanske, Alan L ^a,e   Patel, Ankita ^b   Saukam, Sou ^b   Levy, Brynn ^c   Lüdecke, Hermann Josef ^d  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c New York Presbyterian Columbia University Medical Center   (United States)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

Author keywords

EXT1; FISH; GeneChip analysis; Langer Giedion syndrome; Mosaic interstitial deletion; Multiple exostoses; Tricho rhino phalangeal syndrome type II; TRPS1

Indexed keywords

ADOLESCENT; ARTICLE; BONE AGE; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 8Q; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; EPIPHYSIS; EXT1 GENE; FEMALE; GENE; GENE LOCUS; HEMIZYGOSITY; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MENTAL DEFICIENCY; PHILTRUM; PRIORITY JOURNAL; SCANTY HAIR; SHORT STATURE; SKIN FIBROBLAST; TRICHORHINOPHALANGEAL SYNDROME 2; TRPS1 GENE;

ADOLESCENT; BONE AND BONES; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HUMANS; LANGER-GIEDION SYNDROME; MOSAICISM;

EID: 57149084280     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32615     Document Type: Article

References (18)

1. Ahn J, Lüdecke H-J, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE. 1995. Cloning of the putative tumor suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet 11:137-143.
2. Brocas H, Bühler EM, Simon P, Malik NJ, Vassart G. 1986. Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II. Hum Genet 74:178-180.
3. Bühler EM, Malik NJ. 1984. The trichorhinophalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities? (Editorial) Am J Med Genet 19:113-119.
4. Bühler EM, Bühler UK, Beutler C, Fessler R. 1987. A final word on the tricho-rhino-phalangeal syndromes. Clin Genet 31:273-275.
5. Fisher E, Scambler P. 1994. Human haploinsufficiency - One for sorrow, two for joy. Nat Genet 7:5-7.
6. Hall BD, Langer LO, Giedion A, Smith DW, Cohen MM Jr, Beals RK, Brandner M. 1974. Langer-Giedion syndrome. Birth Defects Orig Art Ser (X) 12:147-164.
7. Hamers A, Jongbloet P, Peeters G, Fryns JP, Geraedts J. 1990. Severe mental retardation in a patient with tricho-rhinophalangeal syndrome type I and 8q deletion. Eur J Pediatr 149:618-620.
8. Lüdecke H-J, Johnson C, Wagner MJ, Wells DE, Turleau C, Tommerup N, Latos-Bielenska A, Sandig R, Meinecke P, Zabel B, Horsthemke B. 1991. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet 49:1197-1206.
9. Lüdecke H-J, Schaper J, Meinecke P, Momeni P, Groß S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen H-J, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship THJ, Greiwe M, Hamm H, Hennekam RCM, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Ørstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjærg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. 2001. Genotypic and phenotypic spectrum in the tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 68:81-91.
10. Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke H-J. 2000. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhinophalangeal syndrome type I. Nat Genet 24:71-74.
11. Naritomi K, Hirayama K. 1989. Partial trisomy of distal 8q derived from mother with mosaic 8q23.3 → 24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. Hum Genet 82:199-201.
12. Pfeiffer RA. 1980. Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome8. 46, XY, del8(q13-22). Clin Genet 18:142-146.
13. Riedl S, Giedion A, Schweitzer K, Müllner-Eidenböck A, Grill F, Frisch H, Lüdecke H-J. 2004. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion Syndrome) and growth hormone deficiency. Am J Med Genet Part A 131A:200-203.
14. Shimizu A, Asakawa S, Sasaki T, Yamazaki S, Yamagata H, Kudoh J, Minoshima S, Kondo I, Shimizu N. 2003. A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: A candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1. Biochem Biophys Res Commun 309:143-154.
15. Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T, Stankiewicz P. 2007. Recurrent SOX9 deletion campomelic dysplasia due to a somatic mosaicism in the father. Am J Med Genet Part A 143A:866-870.
16. Yamamoto Y, Oguro N, Miyao M, Yanagisawa M. 1989. Trichorhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. Am J Med Genet 32: 133-135.
17. Zabel B, Baumann WA. 1982. Langer-Giedion syndrome with interstitial 8q-deletion. Am J Med Genet 11:353-358.
18. Zaletajev DV, Kuleshov NP, Lur'e IV, Marincheva GS. 1987. Langer-Giedion syndrome and chromosome 8 long arm deletion. Sov Genet 23:629-633.