Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parat...
| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
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Bioscientifica
2018-12-01
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| Colecção: | Endocrinology, Diabetes & Metabolism Case Reports |
| Acesso em linha: | https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0114.xml |
| _version_ | 1831701589546500096 |
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| author | Alejandro García-Castaño Leire Madariaga Sharona Azriel Gustavo Pérez de Nanclares Idoia Martínez de LaPiscina Rosa Martínez Inés Urrutia Aníbal Aguayo Sonia Gaztambide Luis Castaño |
| author_facet | Alejandro García-Castaño Leire Madariaga Sharona Azriel Gustavo Pérez de Nanclares Idoia Martínez de LaPiscina Rosa Martínez Inés Urrutia Aníbal Aguayo Sonia Gaztambide Luis Castaño |
| author_sort | Alejandro García-Castaño |
| collection | DOAJ |
| description | Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. We performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercalcemia with normal PTH and 25-hydroxyvitamin D levels. The CASR was screened for mutations by PCR followed by direct Sanger sequencing and, in order to detect large deletions or duplications, multiplex ligation-dependent probe amplification (MLPA) was used. One large deletion of 973 nucleotides in heterozygous state (c.1733-255_2450del) was detected. This is the first large deletion detected by the MLPA technique in the CASR gene. |
| first_indexed | 2024-12-20T15:05:27Z |
| format | Article |
| id | doaj.art-bdc46244501e4e9bb1bdb94e26bcc9a3 |
| institution | Directory Open Access Journal |
| issn | 2052-0573 2052-0573 |
| language | English |
| last_indexed | 2024-12-20T15:05:27Z |
| publishDate | 2018-12-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrinology, Diabetes & Metabolism Case Reports |
| spelling | doaj.art-bdc46244501e4e9bb1bdb94e26bcc9a32022-12-21T19:36:31ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732052-05732018-12-01111510.1530/EDM-18-0114Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemiaAlejandro García-Castaño0Leire Madariaga1Sharona Azriel2Gustavo Pérez de Nanclares3Idoia Martínez de LaPiscina4Rosa Martínez5Inés Urrutia6Aníbal Aguayo7Sonia Gaztambide8Luis Castaño9Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, SpainBiocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain; Hospital Universitario Cruces, UPV/EHU, Barakaldo, SpainHospital Infanta Sofia, Madrid, SpainBiocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain; Hospital Universitario Cruces, UPV/EHU, Barakaldo, SpainBiocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, SpainBiocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, SpainBiocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, SpainBiocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain; Hospital Universitario Cruces, UPV/EHU, Barakaldo, SpainBiocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain; Hospital Universitario Cruces, UPV/EHU, Barakaldo, SpainBiocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain; Hospital Universitario Cruces, UPV/EHU, Barakaldo, SpainFamilial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. We performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercalcemia with normal PTH and 25-hydroxyvitamin D levels. The CASR was screened for mutations by PCR followed by direct Sanger sequencing and, in order to detect large deletions or duplications, multiplex ligation-dependent probe amplification (MLPA) was used. One large deletion of 973 nucleotides in heterozygous state (c.1733-255_2450del) was detected. This is the first large deletion detected by the MLPA technique in the CASR gene.https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0114.xml |
| spellingShingle | Alejandro García-Castaño Leire Madariaga Sharona Azriel Gustavo Pérez de Nanclares Idoia Martínez de LaPiscina Rosa Martínez Inés Urrutia Aníbal Aguayo Sonia Gaztambide Luis Castaño Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia Endocrinology, Diabetes & Metabolism Case Reports |
| title | Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia |
| title_full | Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia |
| title_fullStr | Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia |
| title_full_unstemmed | Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia |
| title_short | Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia |
| title_sort | identification of a novel large casr deletion in a patient with familial hypocalciuric hypercalcemia |
| url | https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0114.xml |
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