Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
Identifieur interne : 000008 ( Main/Exploration ); précédent : 000007; suivant : 000009Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
Auteurs : Anna Papadopoulou [Grèce] ; Evangelia Gole [Grèce] ; Katerina Melachroinou [Grèce] ; Christos Meristoudis [Grèce] ; Tania Siahanidou [Grèce] ; Anastasios Papadimitriou [Grèce]Source :
- Journal of Clinical Research in Pediatric Endocrinology [ 1308-5727 ] ; 2016.
Abstract
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder, associated with inactivating mutations of the calcium-sensing receptor (CaSR). To evaluate the functional significance of a CaSR mutation, identified in a young infant who presented with hypercalcemia and hypocalciuria. The CaSR gene coding sequences were analyzed by polymerase chain reaction amplification and direct sequencing analysis. The mutation identified was introduced by site-directed mutagenesis into a wild-type (WT) CaSR plasmid, and human embryonic kidney 293 T cells were transfected with either the WT or mutant CaSR. The function of the mutated CaSR protein was analyzed by evaluating the free intracellular calcium [(Ca2+)i] response after challenge with extracellular calcium (Ca2+). We identified a heterozygous mutation c.772_773delGTinsA in exon 4 resulting in the substitution of amino acid valine (Val) with amino acid arginine (Arg) and the premature pause of the translation 46 amino acids later (Val258ArgfsTer47). Functional assay showed that cells transfected with the mutant CaSR had a significantly poorer response to extracellular Ca2+ stimulation compared with the WT. We have shown that the c.772_773delGTinsA mutation causes a significant alteration of CaSR function leading to features of FHH in an affected young infant since the first months of life.
Url:
DOI: 10.4274/jcrpe.2800
PubMed: 27087013
PubMed Central: 5096500
Affiliations:
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Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Gole, Evangelia" sort="Gole, Evangelia" uniqKey="Gole E" first="Evangelia" last="Gole">Evangelia Gole</name><affiliation wicri:level="3"><nlm:aff id="A1"> Athens University Medical School, University General Hospital “Attikon”, Third Department of Pediatrics, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea> Athens University Medical School, University General Hospital “Attikon”, Third Department of Pediatrics, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Melachroinou, Katerina" sort="Melachroinou, Katerina" uniqKey="Melachroinou K" first="Katerina" last="Melachroinou">Katerina Melachroinou</name><affiliation wicri:level="3"><nlm:aff id="A2"> Biomedical Research Foundation of the Academy of Athens, Division of Basic Neurosciences, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea> Biomedical Research Foundation of the Academy of Athens, Division of Basic Neurosciences, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Meristoudis, Christos" sort="Meristoudis, Christos" uniqKey="Meristoudis C" first="Christos" last="Meristoudis">Christos Meristoudis</name><affiliation wicri:level="1"><nlm:aff id="A3"> University of Ioannina, Department of Biological Applications and Technology, Ioannina, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea> University of Ioannina, Department of Biological Applications and Technology, Ioannina</wicri:regionArea><wicri:noRegion>Ioannina</wicri:noRegion></affiliation></author><author><name sortKey="Siahanidou, Tania" sort="Siahanidou, Tania" uniqKey="Siahanidou T" first="Tania" last="Siahanidou">Tania Siahanidou</name><affiliation wicri:level="3"><nlm:aff id="A4"> Athens University Medical School, “Aghia Sophia” Children’s Hospital, First Department of Pediatrics, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea> Athens University Medical School, “Aghia Sophia” Children’s Hospital, First Department of Pediatrics, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Papadimitriou, Anastasios" sort="Papadimitriou, Anastasios" uniqKey="Papadimitriou A" first="Anastasios" last="Papadimitriou">Anastasios Papadimitriou</name><affiliation wicri:level="3"><nlm:aff id="A1"> Athens University Medical School, University General Hospital “Attikon”, Third Department of Pediatrics, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea> Athens University Medical School, University General Hospital “Attikon”, Third Department of Pediatrics, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author></analytic><series><title level="j">Journal of Clinical Research in Pediatric Endocrinology</title><idno type="ISSN">1308-5727</idno><idno type="eISSN">1308-5735</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder, associated with inactivating mutations of the calcium-sensing receptor (CaSR). To evaluate the functional significance of a CaSR mutation, identified in a young infant who presented with hypercalcemia and hypocalciuria. The CaSR gene coding sequences were analyzed by polymerase chain reaction amplification and direct sequencing analysis. The mutation identified was introduced by site-directed mutagenesis into a wild-type (WT) CaSR plasmid, and human embryonic kidney 293 T cells were transfected with either the WT or mutant CaSR. The function of the mutated CaSR protein was analyzed by evaluating the free intracellular calcium [(Ca<sup>2+</sup>)<sub>i</sub>] response after challenge with extracellular calcium (Ca<sup>2+</sup>). We identified a heterozygous mutation c.772_773delGTinsA in exon 4 resulting in the substitution of amino acid valine (Val) with amino acid arginine (Arg) and the premature pause of the translation 46 amino acids later (Val258ArgfsTer47). Functional assay showed that cells transfected with the mutant CaSR had a significantly poorer response to extracellular Ca<sup>2+</sup> stimulation compared with the WT. We have shown that the c.772_773delGTinsA mutation causes a significant alteration of CaSR function leading to features of FHH in an affected young infant since the first months of life.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Brown, Em" uniqKey="Brown E">EM Brown</name></author><author><name sortKey="Gamba, G" uniqKey="Gamba G">G Gamba</name></author><author><name sortKey="Riccardi, D" uniqKey="Riccardi D">D Riccardi</name></author><author><name sortKey="Lombardi, M" uniqKey="Lombardi M">M Lombardi</name></author><author><name sortKey="Butters, R" uniqKey="Butters R">R Butters</name></author><author><name sortKey="Kifor, O" uniqKey="Kifor O">O Kifor</name></author><author><name sortKey="Sun, A" uniqKey="Sun A">A Sun</name></author><author><name sortKey="Hediger, Ma" uniqKey="Hediger M">MA Hediger</name></author><author><name sortKey="Lytton, J" uniqKey="Lytton J">J Lytton</name></author><author><name sortKey="Hebert, Sc" 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sortKey="Opas, Ee" uniqKey="Opas E">EE Opas</name></author><author><name sortKey="Tuluc, F" uniqKey="Tuluc F">F Tuluc</name></author><author><name sortKey="Metzger, Dl" uniqKey="Metzger D">DL Metzger</name></author><author><name sortKey="Hou, C" uniqKey="Hou C">C Hou</name></author><author><name sortKey="Hakonarson, H" uniqKey="Hakonarson H">H Hakonarson</name></author><author><name sortKey="Levine, Ma" uniqKey="Levine M">MA Levine</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nesbit, Ma" uniqKey="Nesbit M">MA Nesbit</name></author><author><name sortKey="Hannan, Fm" uniqKey="Hannan F">FM Hannan</name></author><author><name sortKey="Howles, Sa" uniqKey="Howles S">SA Howles</name></author><author><name sortKey="Reed, Aa" uniqKey="Reed A">AA Reed</name></author><author><name sortKey="Cranston, T" uniqKey="Cranston T">T Cranston</name></author><author><name sortKey="Thakker, Ce" uniqKey="Thakker C">CE Thakker</name></author><author><name sortKey="Gregory, L" uniqKey="Gregory L">L Gregory</name></author><author><name sortKey="Rimmer, Aj" uniqKey="Rimmer A">AJ Rimmer</name></author><author><name sortKey="Rust, N" uniqKey="Rust N">N Rust</name></author><author><name sortKey="Graham, U" uniqKey="Graham U">U Graham</name></author><author><name sortKey="Morrison, Pj" uniqKey="Morrison P">PJ Morrison</name></author><author><name sortKey="Hunter, Sj" uniqKey="Hunter S">SJ Hunter</name></author><author><name sortKey="Whyte, Mp" uniqKey="Whyte M">MP Whyte</name></author><author><name sortKey="Mcvean, G" uniqKey="Mcvean G">G McVean</name></author><author><name sortKey="Buck, D" uniqKey="Buck D">D Buck</name></author><author><name sortKey="Thakker, Rv" uniqKey="Thakker R">RV Thakker</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stratta, P" uniqKey="Stratta P">P Stratta</name></author><author><name sortKey="Merlotti, G" uniqKey="Merlotti G">G Merlotti</name></author><author><name sortKey="Musetti, C" uniqKey="Musetti C">C Musetti</name></author><author><name sortKey="Quaglia, M" uniqKey="Quaglia M">M Quaglia</name></author><author><name sortKey="Pagani, A" uniqKey="Pagani A">A Pagani</name></author><author><name sortKey="Izzo, C" uniqKey="Izzo C">C Izzo</name></author><author><name sortKey="Radin, E" uniqKey="Radin E">E Radin</name></author><author><name sortKey="Airoldi, A" uniqKey="Airoldi A">A Airoldi</name></author><author><name sortKey="Baorda, F" uniqKey="Baorda F">F Baorda</name></author><author><name sortKey="Palladino, T" uniqKey="Palladino T">T Palladino</name></author><author><name sortKey="Leone, Mp" uniqKey="Leone M">MP Leone</name></author><author><name sortKey="Guarnieri, V" uniqKey="Guarnieri V">V Guarnieri</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Grèce</li></country><region><li>Attique (région)</li></region><settlement><li>Athènes</li></settlement></list><tree><country name="Grèce"><region name="Attique (région)"><name sortKey="Papadopoulou, Anna" sort="Papadopoulou, Anna" uniqKey="Papadopoulou A" first="Anna" last="Papadopoulou">Anna Papadopoulou</name></region><name sortKey="Gole, Evangelia" sort="Gole, Evangelia" uniqKey="Gole E" first="Evangelia" last="Gole">Evangelia Gole</name><name sortKey="Melachroinou, Katerina" sort="Melachroinou, Katerina" uniqKey="Melachroinou K" first="Katerina" last="Melachroinou">Katerina Melachroinou</name><name sortKey="Meristoudis, Christos" sort="Meristoudis, Christos" uniqKey="Meristoudis C" first="Christos" last="Meristoudis">Christos Meristoudis</name><name sortKey="Papadimitriou, Anastasios" sort="Papadimitriou, Anastasios" uniqKey="Papadimitriou A" first="Anastasios" last="Papadimitriou">Anastasios Papadimitriou</name><name sortKey="Siahanidou, Tania" sort="Siahanidou, Tania" uniqKey="Siahanidou T" first="Tania" last="Siahanidou">Tania Siahanidou</name></country></tree></affiliations></record>Pour manipuler ce 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