HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

Clinical Genetics

Volumn 76, Issue 1, 2009, Pages 117-119

  Bernardini, L ^a   Sinibaldi, L ^a,b   Capalbo, A ^a   Bottillo, I ^a,b   Mancuso, B ^a,b   Torres, B ^a,b   Novelli, A ^a,b   Digilio, M C ^c   Dallapiccola, Bruno ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 3;

BRAIN HEMORRHAGE; CASE REPORT; CHROMOSOME 10P; CHROMOSOME REARRANGEMENT; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA POLYMORPHISM; ECHOENCEPHALOGRAPHY; FACE DYSMORPHIA; FEMALE; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENE MAPPING; GENE NUMBER; GENE SEQUENCE; HEARING IMPAIRMENT; HEART DISEASE; HUMAN; HYPOTHYROIDISM; INFANT; KIDNEY DYSPLASIA; LETTER; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SYNDACTYLY; TOE MALFORMATION;

DEAFNESS; FEMALE; GATA3 TRANSCRIPTION FACTOR; GENE DUPLICATION; HUMANS; HYPOPARATHYROIDISM; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KIDNEY; SYNDROME;

EID: 67650881987     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01170.x     Document Type: Letter

References (18)

1. Van Esch H, Groenen P, Nesbit MA et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000: 406: 419-422.
2. Ali A, Christie PT, Grigorieva IV et al. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: Insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet 2007: 16: 265-275.
3. Muroya K, Hasegawa T, Ito Y et al. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 2001: 38: 374-380.
4. Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 2003: 12: 2153-2165.
5. Veitia RA. Exploring the etiology of haploinsufficiency. Bioessays 2002: 24: 175-184.
6. Sopko R, Huang D, Preston N et al. Mapping pathways and phenotypes by systematic gene overexpression. Mol Cell 2006: 21: 319-330.
7. Berry FB, Skarie JM, Mirzayans F et al. FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A. Hum Mol Genet 2008: 17: 490-505.
8. Ryan AK, Goodship JA, Wilson DI et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 1997: 34: 798-804.
9. Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 2001: 27: 286-291.
10. Ensenauer RE, Adeyinka A, Flynn HC et al. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003: 73: 1027-1040.
11. Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet 2007: 80: 510-517.
12. Torres-Juan L, Rosell J, Morla M et al. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: A new susceptibility factor for mental retardation. Eur J Hum Genet 2007: 15: 658-663.
13. George KM, Leonard MW, Roth ME et al. Embryonic expression and cloning of the murine GATA-3 gene. Development 1994: 120: 2673-2686.
14. Hasegawa SL, Moriguchi T, Rao A, Kuroha T, Engel JD, Lim KC. Dosage-dependent rescue of definitive nephrogenesis by a distant Gata3 enhancer. Dev Biol 2007: 301: 568-577.
15. Daniel A, St Heaps L, Sylvester D, Diaz S, Peters G. Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres. Cell Chromosome 2008: 7: 1.
16. Daw SC, Taylor C, Kraman M et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 1996: 13: 458-460.
17. Crawford SE, Qi C, Misra P et al. Defects of the heart, eye, and megakaryocytes in peroxisome proliferator activator receptor-binding protein (PBP) null embryos implicate GATA family of transcription factors. J Biol Chem 2002: 277: 3585-3592.
18. De Luca A, Bottillo I, Dasdia MC et al. Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification. J Med Genet 2007: 44: 800-808.