Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism

European Journal of Pediatrics

Volumn 158, Issue 3, 1999, Pages 200-203

  Walden, U ^c   Weissortel R ^c   Corria, Z ^b   Yu, D ^b   Weinstein, L ^b   Kruse, K ^a   Dorr H G ^c  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b Metabolism Branch   (United States)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

GNAS1 deletion; Gs protein; Hot spot mutation; Imprinting; Pseudohypoparathyroidism 1a

Indexed keywords

PROTEIN SUBUNIT; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC SCREENING; HORMONE RESISTANCE; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM;

ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEINS; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM; SEQUENCE DELETION;

EID: 0033003355     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310051048     Document Type: Article

References (14)

1. 1. Barr DG, Stirling HF, Darling JA (1994) Evolution of pseudohypoparathyroidism: an informative family study. Arch Dis Child 70:337-338
2. 2. Brandt I, Reinken L (1988) Die Wachstumsgeschwindigkeit gesunder Kinder in den ersten 16 Lebensjahren: longitudinale Entwicklungsstudie Bonn-Dortmund. Klin Päd 451-456
3. 3. Davies SJ, Hughes HE (1993) Imprinting in Albright's hereditary osteodystrophy. J Med Gent 30:101-103
4. 4. Greulich WW, Pyle SI (1959) Radiographic atlas of skeletal development of the hand and wrist, 2 edn. Stanford University Press, Stanford
5. 5. Marguet C, Mallet E, Basuyau JP, Martin D, Leroy M, Brunelle P (1997) Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Horm Res 48:120-130
6. 6. 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
7. 7. Nakatoma JM, Sandstrom AT, Brickman AS, Christenson RA, Van Dop C (1998) Pseudohypoparathyroidism type 1a from maternal but not paternal transmission of a Gsα gene mutation. Am J Med Genet 77:261-267
8. 8. Ringel MD, Schwindinger WF, Levin SR (1996) Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine 75:171-184
9. 9. Weinstein LS (1998) Albright hereditary osteodystrophy, pseudohypoparathyroidism and Gs deficiency. In: Spiegel AM (ed) G proteins, receptor and disease. Humana Press, Totowa, N.J., pp 23-56
10. 10. Weinstein LS, Gejman PV, Friedman E, Kadowski 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 USA 87:8287-8290
11. 11. Weinstein LS, Gejman PV, Mazancourt P de, American N, Spiegel AM (1992) A heterozygous four-base pair deletion mutation in the Gsα gene (GNAS1) in a patient with Albright hereditary osteodystrophy. Genomics 13:1319-1321
12. 12. Yokoyama M, Takeda K, Iyota K, Okabayashi T, Hashimoto K (1996) A 4-base pair deletion mutation of Gsα gene in a Japanese patient with pseudohypoparathyroidism. J Endocrinol Invest 19:236-241
13. 13. Yu S, Yu D, Hainline BE, Brener JL, Wilson KA, Wilson LC, Oude Luttikhuis ME, Trembath RC, Weinstein LS (1995) A deletion hot-spot in exon 7 of the Gsα gene (GNAS1) in patients with Albright hereditary osteodystrophy. Hum Mol Gen 4:2001-2002
14. 14. Yu S, Yu D, Lee E, Eckhaus M, Lee R, Corria Z, Accili D, Westphal H, Weinstein LS (1998) Variable and tissue-specific hormone resistance in heterotrimeic G protein α-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene. Proc Natl Acad Sci USA 95:8715-8720