Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations

Human Mutation

Volumn 34, Issue 3, 2013, Pages 411-416

  Elli, Francesca Marta ^a   deSanctis, Luisa ^b   Ceoloni, Barbara ^b   Barbieri, Anna Maria ^a   Bordogna, Paolo ^a   Beck Peccoz, Paolo ^a   Spada, Anna ^a   Mantovani, Giovanna ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

Author keywords

GNAS; PHP Ia; PPHP; Pseudohypoparathyroidism; Type Ia

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN, ALPHA STIMULATING PROTEIN; UNCLASSIFIED DRUG;

ALBRIGHT SYNDROME; ARTICLE; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; EXON; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DATABASE; GENETIC TRAIT; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HORMONE RESISTANCE; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MOLECULAR PATHOLOGY; PATHOGENICITY; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1A; PSEUDOPSEUDOHYPOPARATHYROIDISM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GENETIC ASSOCIATION STUDIES; GENETIC COUNSELING; GENETIC LOCI; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PHENOTYPE; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84873989510     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22265     Document Type: Article

References (36)

1. Ahmed SF, Dixon PH, Bonthron DT, Stirling HF, Barr DG, Kelnar CJ, Thakker RV. 1998. GNAS mutational analysis in pseudohypoparathyroidism. Clin Endocrinol (Oxf) 49:525-531.
2. Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K. 2001. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 86:4630-4634.
3. Aldred MA, Trembath RC. 2000. Activating and inactivating mutations in the human GNAS gene. Hum Mutat 16:183-189.
4. Bastida Eizaguirre M, Iturbe Ortiz De Urbina R, Arto Urzainqui M, Ezquerra Larreina R, Escalada San Martín J. 2001. Albright hereditary osteodystrophy: identification of a novel mutation in a family. An Esp Pediatr 54:598-600.
5. Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM. 2011. On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat 32:1075-1099.
6. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
7. deSanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scirè G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, et al. 2003. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 53:749-755.
8. deSanctis L, Vai S, Andreo MR, Romagnolo D, Silvestro L, de Sanctis C. 2004. Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. J Clin Endocrinol Metab 89:1650-1655.
9. Farfel Z, Iiri T, Shapira H, Roitman A, Mouallem M, Bourne HR. 1996. Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. J Biol Chem 271:19653-19655.
10. Garavelli L, Pedori S, Zanacca C, Caselli G, Loiodice A, Mantovani G, Ammenti A, Virdis R, Banchini G. 2005. Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. Acta Biomed 76:45-48.
11. Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, Levine MA. 2002. Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 296:67-72.
12. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. 2003. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 88:4059-4069.
13. Ishikawa Y, Tajima T, Nakae J, Nagashima T, Satoh K, Okuhara K, Fujieda K. 2001. Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. J Hum Genet 46:426-430.
14. Kinard RE, Walton JE, Buckwalter JA. 1979. Pseudohypoparathyroidism: report on a family with four affected sisters. Arch Intern Med 139:204-207.
15. Lim SH, Poh LK, Cowell CT, Tey BH, Loke KY. 2002. Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a. J Pediatr Endocrinol Metab 15:259-268.
16. Linglart A, Carel JC, Garabédian M, Lé T, Mallet E, Kottler ML. 2002. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab 87:189-197.
17. Mantovani G. 2011. Clinical review: pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab 96:3020-3030.
18. Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A. 2002. The Gsα gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 87:4736-4740.
19. Mantovani G, deSanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli E, Lania AG, Beck-Peccoz P, Spada A. 2010. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab 95:651-658.
20. Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, Beck-Peccoz P, Spada A. 2000. Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 85:4243-4248.
21. Miric A, Vechio JD, Levine MA. 1993. Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 76:1560-1568.
22. Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA. 1990. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 322:1412-1419.
23. Pohlenz J, Ahrens W, Hiort O. 2003. A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. Eur J Endocrinol 148:463-468.
24. Rickard SJ, Wilson LC. 2003. Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. Am J Hum Genet 72:961-974.
25. Riepe FG, Ahrens W, Krone N, Fölster-Holst R, Brasch J, Sippell WG, Hiort O, Partsch CJ. 2005. Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. Eur J Endocrinol 152:515-519.
26. Shapira H, Mouallem M, Shapiro MS, Weisman Y, Farfel Z. 1996. Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. Hum Genet 97:73-75.
27. Thiele S, Werner R, Ahrens W, Hoppe U, Marschke C, Staedt P, Hiort O. 2007. A disruptive mutation in exon 3 of the GNAS gene with Albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. J Clin Endocrinol Metab 92:1764-1768.
28. Warner DR, Gejman PV, Collins RM, Weinstein LS. 1997. A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism. Mol Endocrinol 11:1718-1727.
29. Warner DR, Weng G, Yu S, Matalon R, Weinstein LS. 1998. A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation. J Biol Chem 273(37):23976-23983.
30. Weinstein LS, Gejman PV, de Mazancourt P, American N, Spiegel AM. 1992. A heterozygous 4-bp deletion mutation in the Gsα gene (GNAS) in a patient with Albright's hereditary osteodystrophy. Genomics 13:1319-1321.
31. Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, Spiegel AM. 1990. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A 87:8287-8290.
32. Wettschureck N, Offermanns S. 2005. Mammalian G proteins and their cell type specific functions. Physiol Rev 85:1159-1204.
33. Wilson LC, Oude Luttikhuis ME, Clayton PT, Fraser WD, Trembath RC. 1994. Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. J Med Genet 31:835-839.
34. Yokoyama M, Takeda K, Iyota K, Okabayashi T, Hashimoto K. 1996. A 4-bp deletion mutation of Gsα gene in a Japanese patient with pseudoparathyroidism. J Endocrinol Invest 19:236-241.
35. Yu S, Yu D, Hainline BE, Brener JL, Wilson KA, Wilson LC, Oude-Luttikhuis ME, Trembath RC, Weinstein LS. 1995. A deletion hotspot in exon 7 of the Gsα gene (GNAS) in patients with Albright hereditary osteodystrophy. Hum Mol Genet 4:2001-2002.
36. Yu D, Yu S, Schuster V, Kruse K, Clericuzio CL, Weinstein LS. 1999. Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 84:3254-3259.