Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

Journal of Medical Genetics

Volumn 47, Issue 4, 2010, Pages 276-280

  Lecumberri, B ^a   Fernandez Rebollo E ^b,c   Sentchordi, L ^d,e   Saavedra, P ^f   Bernal Chico, A ^b   Pallardo, L F ^a   Jimenez Bustos J M ^d   Castano L ^b,g,h   De Santiago, M ^a   Hiort, O ⁱ   Pérez De Nanclares, Guiomar ^b,g   Bastepe, Murat ^c  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b HOSPITAL DE CRUCES   (Spain)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HOSPITAL UNIVERSITARIO DE GUADALAJARA   (Spain)

^e HOSPITAL UNIVERSITARIO INFANTA LEONOR   (Spain)

^f HOSPITAL UNIVERSITARIO PRÍNCIPE DE ASTURIAS   (Spain)

^g CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^h UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

ⁱ UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; PARATHYROID HORMONE;

ADULT; AGED; ARTICLE; CHROMOSOME 20Q; CHROMOSOME DELETION; CLINICAL ARTICLE; EXON; FAMILY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC EPIGENESIS; GENOME IMPRINTING; HUMAN; INTRON; MALE; PATERNALISM; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID HORMONE RESISTANCE; UNIPARENTAL DISOMY;

ADULT; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DOSAGE; GENOMIC IMPRINTING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PSEUDOHYPOPARATHYROIDISM;

EID: 77951594269     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.071001     Document Type: Article

References (14)

1. Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001;22:675-705. (Pubitemid 32955250)
2. Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol 2008;626:27-40.
3. Levine MA. Hypoparathyroidism and pseudohypoparathyroidism. In: De Groot LJ, Jameson J, eds. Endocrinology. Philadelphia: W.B.Saunders, 2000:1133-1153
4. Liu J, Erlichman B, Weinstein LS. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 2003;88:4336-4341 (Pubitemid 37153740)
5. de Nanclares GP, Fernandez-Rebollo E, Santin I, Garcia-Cuartero B, Gaztambide S, Menendez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castano L, Bastepe M. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 2007;92:2370-2373 (Pubitemid 46997148)
6. Mariot V, Maupetit-Mehouas S, Sinding C, Kottler ML, Linglart A. A maternal epimutation of GNAS leads to Albright osteodystrophy and PTH resistance. J Clin Endocrinol Metab 2008;93:661-665 (Pubitemid 351398535)
7. Unluturk U, Harmanci A, Babaoglu M, Yasar U, Varli K, Bastepe M, Bayraktar M. Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. Am J Med Sci 2008;336:84-90.
8. Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest 2000;106:1167-1174
9. Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum Mol Genet 2001;10:1231-1241 (Pubitemid 32600477)
10. Bastepe M, Lane AH, Jüppner H. Paternal uniparental isodisomy of chromosome 20q - and the resulting changes in GNAS1 methylation - as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 2001;68:1283-1289 (Pubitemid 32424427)
11. Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Jüppner H. 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;112:1255-1263 (Pubitemid 38056302)
12. Linglart A, Gensure RC, Olney RC, Jüppner 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 (Pubitemid 40563102)
13. Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Jüppner H. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 2005;37:25-27 (Pubitemid 40070935)
14. Ahrens W, Hiort O. Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy. J Pediatr Endocrinol Metab 2006;19(Suppl 2):647-651 (Pubitemid 43918584)