Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a
Joint Authors
Moutinho, Adelaide
Carvalho, Rosa
Ferreira Reis, Rita
Tavares, Sandra
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-01-22
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Introduction.
Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright’s hereditary osteodystrophy phenotype.
Materials and Methods.
DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report.
Results.
We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del).
Conclusion.
Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones.
The deletion caused by the mutation identified in the presented case has not been reported previously.
American Psychological Association (APA)
Moutinho, Adelaide& Carvalho, Rosa& Ferreira Reis, Rita& Tavares, Sandra. 2018. Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a. Case Reports in Endocrinology،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1143036
Modern Language Association (MLA)
Moutinho, Adelaide…[et al.]. Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a. Case Reports in Endocrinology No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1143036
American Medical Association (AMA)
Moutinho, Adelaide& Carvalho, Rosa& Ferreira Reis, Rita& Tavares, Sandra. Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a. Case Reports in Endocrinology. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1143036
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143036