scholarly journals Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism

2017 ◽  
Vol 30 (3) ◽  
Author(s):  
Stephanie A. Roberts ◽  
Jennifer E. Moon ◽  
Andrew Dauber ◽  
Jessica R. Smith
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Receptor Gene ◽  
De Novo Mutation ◽  
Thyrotropin Receptor ◽  
Peripheral Blood Leukocytes ◽  
Blood Leukocytes ◽  
Activating Mutation ◽  
Neonatal Hyperthyroidism ◽  
Exon 10

AbstractBackground:Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a wide phenotype from severe neonatal to mild subclinical hyperthyroidism. We describe a 6-month-old boy with a de novo mutation in theMethods:Genomic DNA from the patient’s and parents’ peripheral blood leukocytes was extracted. Exons 9 and 10 of theResults:Sequencing exon 10 of theConclusions:The p.Leu512Met mutation (c.1534C>A) of the

Sporadic Nonautoimmune Congenital Hyperthyroidism due to a Strong Activating Mutation of the Thyrotropin Receptor Gene

Thyroid ◽  
2000 ◽  
Vol 10 (10) ◽  
pp. 859-863 ◽  
Author(s):  
M. Tonacchera ◽  
P. Agretti ◽  
V. Rosellini ◽  
G. Ceccarini ◽  
A. Perri ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Activating Mutation

scholarly journals A “de novo” mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia

2002 ◽  
Vol 1587 (1) ◽  
pp. 7-11 ◽  
Author(s):  
Livia Pisciotta ◽  
Alfredo Cantafora ◽  
Francesco De Stefano ◽  
Silvia Langheim ◽  
Sebastiano Calandra ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
De Novo ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
De Novo Mutation

scholarly journals Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Adelaide Moutinho ◽  
Rosa Carvalho ◽  
Rita Ferreira Reis ◽  
Sandra Tavares
Keyword(s):  
Autosomal Dominant ◽  
Clinical Phenotype ◽  
Novel Mutation ◽  
Target Organ ◽  
Heterozygous Mutation ◽  
Peripheral Blood Leukocytes ◽  
Blood Leukocytes ◽  
The Family ◽  
Gnas Gene ◽  
Gnas Mutation

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.

Sign in / Sign up

Export Citation Format

Share Document