Autosomal dominant pseudohypoparathyroidism type Ib: A novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 4, 2014, Pages

  Elli, Francesca M ^a   De Sanctis, Luisa ^b   Peverelli, Erika ^a   Bordogna, Paolo ^a   Pivetta, Barbara ^c   Miolo, Gianmaria ^c   Beck Peccoz, Paolo ^a   Spada, Anna ^a   Mantovani, Giovanna ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c S MARIA DEGLI ANGELI HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLATION; GENE DELETION; GENES, DOMINANT; GENOMIC IMPRINTING; HUMANS; MALE; PEDIGREE; PSEUDOHYPOPARATHYROIDISM; SYNTAXIN 16; YOUNG ADULT;

EID: 84898483058     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3704     Document Type: Article

References (19)

1. Mantovani G, deSanctis L, Barbieri AM, et al. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients, J Clin Endocrinol Metab. 2010;95:651-658.
2. Mantovani G, Elli FM, Spada A. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification? Horm Metab Res. 2012;44(10):716-772.
3. Mantovani G. Clinical review: pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab. 2011;96:3020-3030.
4. Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS. A GNAS imprinting defect in pseudohypoparathyroidism type Ib. J Clin Invest. 2000;106:1167-1174.
5. Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res . 2005;63:65-74.
6. Liu J, Chen M, Deng C, et al. Identification of the control region for tissue-specific imprinting of the stimulatory G protein -subunit. PNAS . 2005;102(15):5513-5518.
7. Zheng H, Radeva G, McCann JA, Hendy GN, Goodyer CG. Gs- transcripts are biallelicalli expressed in the human kidney cortex: implications for pseudoipoparathyroidism type Ib. J Clin Endocrinol Metab. 2001;86:4627-4629.
8. Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A. The Gs- gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab. 2002;87(10): 4736-4740.
9. Mantovani G, Bondioni S, Locatelli M, et al. Biallelic expression of the Gs- gene in human bone and adipose tissue. J Clin Endocrinol Metab. 89(12):6313-6319.
10. Kelsey G. Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus. Am J Med Genet C Semin Med Genet. 2010;154C:377-386.
11. Richard N, Abeguil G, Coudray N, et al. A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 2012;97(5):E863-E867.
12. Liu J, Erlichman B, Weinstein LS. The stimulatoryGprotein-subunit Gs is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab. 2003;88:4336-4341.
13. Winter JS, Hughes IA. Familial pseudohypoparathyroidism without somatic anomalies. Can Med Ass J . 1986;123:26-31.
14. Linglart A, Bastepe M, Jppner H. Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. Clin Endocrinol (Oxf). 2007;67: 822-831.
15. Juppner H, Bastepe M. Different mutations within or upstream of theGNASlocus cause distinct forms of pseudohypoparathyroidism. J Pediatr Endocrinol Metab. 2006;19(suppl 2):641-646.
16. Bastepe M, Frohlich LF, Hendy GN, et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest. 2003;112(8):1255-1263.
17. Bastepe M, Frohlich LF, Linglart A, et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet. 2005; 37(1):25-27.
18. Linglart A, Gensure RC, Olney RC, Juppner H, Bastepe M. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet. 2005;76:804-814.
19. Chillambhi S, Turan S, Hwang D, Chen H, Juppner H, Bastepe M. Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis. J Clin Endocrinol Metab. 2010;95(8):3993-4002.