Albright's Hereditary Osteodystrophy (Pseudohypoparathyroidism type Ia): Clinical case with a novel mutation of GNAS1

Acta Biomedica de l'Ateneo Parmense

Volumn 76, Issue 1, 2005, Pages

  Garavelli, Livia ^a   Pedori, S ^a   Zanacca, C ^a   Caselli, G ^a   Loiodice, A ^a   Mantovani, G ^b   Ammenti, A ^c   Virdis, Raffaele ^c   Banchini, G ^a  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

Author keywords

Albright's Hereditary Osteodystrophy; GNAS1; Nonsense mutation of exon 13 (CAG TAG, codon 384); PPHP; Pseudohypoparathyroidism; Type IA

Indexed keywords

CALCIUM; THYROXINE;

ALBRIGHT SYNDROME; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA DETERMINATION; FEMALE; GENE; GENE MUTATION; GNAS1 GENE; HUMAN; HYPOCALCEMIA; LABORATORY TEST; NUCLEOTIDE SEQUENCE; PSEUDOHYPOPARATHYROIDISM; SEIZURE; TREATMENT OUTCOME;

EXONS; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; FINGERS; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HETEROZYGOTE; HUMANS; INFANT; METACARPUS; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PSEUDOHYPOPARATHYROIDISM; TOES;

EID: 22244435237     PISSN: 03924203     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Weinberg AG, Stone RT. Autosomal dominant inheritance in Albright's hereditary osteodystrophy. J Pediat 1971; 79: 996-9.
2. OMIM Online Mendelian Inheritance in man http://www. ncbi.nlm.nih.gov/ htbin-post/Omim/dispmim?103580
3. Kinard RE, Walton JE, Buckwalter JA. Pseudohypoparathyroidism. Arch Intern Med 1979; 139: 204-7.
4. Fitch N Albright's hereditary osteodystrophy: a review. Am J Med Genet 1982; 11: 11-29.
5. Levine MA, Anh TG, Klupt SF, et al. Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein G(s) as the molecular basis for Albright hereditary osteodystrophy. Proc Nat Acad Sci 1988; 85: 617-21.
6. Mantovani G, Romoli R, Weber G, et al. Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 2000; 85: 4243-8.
7. Lania A, Mantovani G, Spada A. G protein mutations in endocrine diesases Eur J Endocrinol 2001; 145: 543-59.
8. Ahmed SF, Dixon PH, Bonthron DT, et al. GNAS1 mutational analysis in pseudohypoparathyroidism. Clin Endocrinol 1998; 49: 525-31.
9. Ahrens W, Hiort O, Kirschner T, Marschke C, Kruse K. Analysis of the GNAS1 gene in Albright's hereditary Osteodystrophy. J Clin Endocrinol Metab 2001; 86 (10): 4630-4.
10. Davies SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 1993; 30: 101-3.
11. Stryer L Bourne HR. Gproteins: a family of signal transducers. Annu Rev Cell Biol 1986; 2: 391-419.
12. Farfel Z, Friedman E. Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency Ann Intern Med 1986; 105: 197-9.
13. Wilson LC, Oude Luttikhuis MEM, Clayton PT, Fraser WD, Trembath RC. Parental origin of Gs-alpha gene mutations in Albright's hereditary osteodystrophy. J Med Genet 1994; 31: 835-9.