Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 3139-3143

  Rudaks, Laura I ^a   Nicholl, Jillian K ^a   Bratkovic, Drago ^a   Barnett, Christopher P ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE;

ARRDC4 GENE; BONE RADIOGRAPHY; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL FEATURE; CLINODACTYLY; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA DETERMINATION; FACE DYSMORPHIA; FAMILY HISTORY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE FUNCTION; GENETIC IDENTIFICATION; GROWTH RETARDATION; HUMAN; INSULIN LIKE GROWTH FACTOR 1 RECEPTOR GENE; LETTER; MALE; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECEPTOR GENE; SHORT STATURE; SPATA8 GENE; SPEECH DISORDER;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; DWARFISM; FACIES; FEMALE; HUMANS; PHENOTYPE; RECEPTOR, IGF TYPE 1;

EID: 81955167357     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34310     Document Type: Letter

References (25)

1. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfäffle R, Raile K, Seidel B, Smith RJ, Chernausek SD. 2003. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med 349: 2211-2222.
2. Bhakta KY, Marlin SJ, Shen JJ, Fernandes CJ. 2005. Terminal deletion of chromosome 15q26.1: Case report and brief literature review. J Perinatol 25: 429-432.
3. Biggio JR Jr, Descartes MD, Carroll AJ, Holt RL. 2004. Congenital diaphragmatic hernia: Is 15q26.1-26.2 a candidate locus? Am J Med Genet Part A 126A: 183-185.
4. Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA. 1988. Brief clinical report and review; two patients with ring chromosome 15 syndrome. Am J Med Genet 29: 149-154.
5. Choi JH, Kang M, Kim GH, Hong M, Jin HY, Lee BH, Park JY, Lee SM, Seo EJ, Yoo HW. 2011. Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure. J Clin Endocrinol Metab 96: E130-E134.
6. Dateki S, Fukami M, Tanaka Y, Sasaki G, Moriuchi H, Ogata T. 2011. Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis. Endocr J 58: 155-159.
7. Davidsson J, Collin A, Björkhem G, Soller M. 2008. Array based characterization of a terminal deletion involving chromosome subband 15q26.2: An emerging syndrome associated with growth retardation, cardiac defects and developmental delay. BMC Med Genet 9: 2.
8. de Lacerda L, Carvalho JAR, Stannard B, Werner H, Boguszewski M, Sandrini R, Malozowski SN, LeRoith D, Underwood LE. 1999. In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene. Clin Endocrinol 51: 541-550.
9. Drayer NM, Kamps WA, ten Kate LP, Kuipers JRG, Gouw WL. 1977. Case report 54. Synd Ident 5: 9-11.
10. Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CAL, Govaerts LCP, Wit JM, Hokken-Koelega ACS, Losekoot M. 2009. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype. J Clin Endocrinol Metab 94: 4717-4727.
11. Hengstschläger M, Mittermayer C, Repa C, Drahonsky R, Deutinger J, Bernaschek G. 2004. Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: A new case and discussion of the literature. Fetal Diagn Ther 19: 510-512.
12. Klaassens M, Galjaard RJH, Scott DA, Brüggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A. Prenatal detection and outcome of congenital diaphragmatic hernia associated with deletion of chromosome 15q26: Two patients and review of the literature. Am J Med Genet Part A 143A: 2204-2212.
13. Liu JP, Baker J, Perkins A, Robertson E, Efspertiadis A. 1993. Mice carrying null mutations of the genes encoding insulin-like growth factor I (IGF1R) and type 1 IGF receptor (IGF1R). Cell 75: 59-72.
14. Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi SI, Petry CJ, Saukkonen T, Stanhope R, Dunger DB. 2003. Cell proliferation activities on skin fibroblasts from a short child with abscence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene. J Clin Endocrinol Metab 88: 5981-5988.
15. Pinson L, Perrin A, Plouzennec C, Parent P, Metz C, Collet M, Le Bris MJ, Douet-Guilbet N, Morel F, De Braekeleer M. 2005. Detection of an unexpected subtelomeric 15q26.2->qter deletion in a little girl: Clinical and cytogenetic studies. Am J Med Genet Part A 138A: 160-165.
16. Poot M, Eleveld MJ, van't Slot R, van Genderen MM, Verrijn Stuart aa, Hochstenbach R, Beemer FA. 2007. Proportional growth failure and oculocutaneous albinism in a girl with a 6.87Mb deletion of region 15q26.2->qter. Eur J Med Genet 50: 432-440.
17. Roback EW, Barakat AJ, Dev VG, Mbikay M, Chrétien M, Butler MG. 1991. An infant with deletion of the distal long arm of chromosome 15 (q26.1->qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet 38: 74-79.
18. Rujirabanjerd S, Suwannarat W, Sripo T, Dissaneevate P, Permsirivanich W, Limprasert P. 2007. De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation. Am J Med Genet Part A 143A: 271-276.
19. Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM. 2008. Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2->qter). Clin Genet 74: 455-462.
20. Sara VR, Hall K. 1990. Insulin-like growth factors and their binding proteins. Physiol Rev 70: 591-614.
21. Siebler T, Lopaczynski W, Terry CL, Casella SJ, Munson P, De Leon DD, Phang L, Blakemore KJ, McEvoy RC. Kelley RI. 1995. Insulin-like growth factor 1 receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15. J Clin Endocrinol Metab 80: 3447-3457.
22. Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. 2005. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet 42: 730-736.
23. Tönnies H, Schulze I, Hennies HC, Neumann LM, Keitzer R, Neitzel H. 2001. De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes. J Med Genet 38: 617-621.
24. Veenma DCM, Eussen HJ, Govaerts LCP, de Cort SW, Odink RJ, Wouters CH, Hokken-Koelega AC, de Klein A. 2010. Phenotype-genotype correlation in a familial IGF1R microdeletion case. J Med Genet 47: 492-498.
25. Walenkamp MJE, de Muinck Keizer-Schrama SMPF, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M, Wit JM. 2008. Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-i receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification. J Clin Endocrinol Metab 93: 2421-2425.