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Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.
Acta Biomed. 2005 Apr; 76(1):45-8.AB

Abstract

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.

Authors+Show Affiliations

Department of Pediatrics, S. Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

16116826

Citation

Garavelli, Livia, et al. "Albright's Hereditary Osteodystrophy (pseudohypoparathyroidism Type Ia): Clinical Case With a Novel Mutation of GNAS1." Acta Bio-medica : Atenei Parmensis, vol. 76, no. 1, 2005, pp. 45-8.
Garavelli L, Pedori S, Zanacca C, et al. Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. Acta Biomed. 2005;76(1):45-8.
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 Bio-medica : Atenei Parmensis, 76(1), 45-8.
Garavelli L, et al. Albright's Hereditary Osteodystrophy (pseudohypoparathyroidism Type Ia): Clinical Case With a Novel Mutation of GNAS1. Acta Biomed. 2005;76(1):45-8. PubMed PMID: 16116826.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. AU - Garavelli,Livia, AU - Pedori,S, AU - Zanacca,C, AU - Caselli,G, AU - Loiodice,A, AU - Mantovani,G, AU - Ammenti,A, AU - Virdis,Raffaele, AU - Banchini,G, PY - 2005/8/25/pubmed PY - 2005/10/1/medline PY - 2005/8/25/entrez SP - 45 EP - 8 JF - Acta bio-medica : Atenei Parmensis JO - Acta Biomed VL - 76 IS - 1 N2 - Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder. SN - 0392-4203 UR - https://www.unboundmedicine.com/medline/citation/16116826/Albright's_hereditary_osteodystrophy__pseudohypoparathyroidism_type_Ia_:_clinical_case_with_a_novel_mutation_of_GNAS1_ L2 - http://www.diseaseinfosearch.org/result/300 DB - PRIME DP - Unbound Medicine ER -