Five patients with disorders of calcium metabolism presented with GCM2 gene variants

Abstract The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder of calcium metabolism were screened for mutations...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Carmen Lourdes Rey Cordo, María López-Iglesias, Yolanda Garcia-Fernández, Alicia Martín, Pedro González, Ignacio Goicolea, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Idoia Martínez de LaPiscina, Rosa Martínez, Laura Saso, Inés Urrutia, Olaia Velasco, Luis Castaño, Sonia Gaztambide
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/21ec769fee1348db929c1757673e7caa
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:21ec769fee1348db929c1757673e7caa
record_format	dspace
spelling	oai:doaj.org-article:21ec769fee1348db929c1757673e7caa2021-12-02T14:06:18ZFive patients with disorders of calcium metabolism presented with GCM2 gene variants10.1038/s41598-021-82661-y2045-2322https://doaj.org/article/21ec769fee1348db929c1757673e7caa2021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-82661-yhttps://doaj.org/toc/2045-2322Abstract The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder of calcium metabolism were screened for mutations by Next-Generation Sequencing (NGS). A targeted panel for disorders of calcium and phosphorus metabolism was designed to include 65 genes associated with these disorders. We observed two variants of uncertain significance (p.(Ser487Phe) and p.Asn315Asp), one likely pathogenic (p.Val382Met) and one benign variant (p.Ala393_Gln395dup) in the GCM2 gene in the heterozygous state in five families (two index cases had hypocalcemia and hypoparathyroidism, respectively, and three index cases had primary hyperparathyroidism). Our study shows the utility of NGS in unravelling the genetic origin of some disorders of the calcium and phosphorus metabolism, and confirms the GCM2 gene as an important element for the maintenance of calcium homeostasis. Importantly, a novel variant in the GCM2 gene (p.(Ser487Phe)) has been found in a patient with hypocalcemia.Alejandro García-CastañoLeire MadariagaSara Gómez-CondeCarmen Lourdes Rey CordoMaría López-IglesiasYolanda Garcia-FernándezAlicia MartínPedro GonzálezIgnacio GoicoleaGustavo Pérez de NanclaresAna Belén De la HozAníbal AguayoIdoia Martínez de LaPiscinaRosa MartínezLaura SasoInés UrrutiaOlaia VelascoLuis CastañoSonia GaztambideNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Alejandro García-Castaño Leire Madariaga Sara Gómez-Conde Carmen Lourdes Rey Cordo María López-Iglesias Yolanda Garcia-Fernández Alicia Martín Pedro González Ignacio Goicolea Gustavo Pérez de Nanclares Ana Belén De la Hoz Aníbal Aguayo Idoia Martínez de LaPiscina Rosa Martínez Laura Saso Inés Urrutia Olaia Velasco Luis Castaño Sonia Gaztambide Five patients with disorders of calcium metabolism presented with GCM2 gene variants
description	Abstract The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder of calcium metabolism were screened for mutations by Next-Generation Sequencing (NGS). A targeted panel for disorders of calcium and phosphorus metabolism was designed to include 65 genes associated with these disorders. We observed two variants of uncertain significance (p.(Ser487Phe) and p.Asn315Asp), one likely pathogenic (p.Val382Met) and one benign variant (p.Ala393_Gln395dup) in the GCM2 gene in the heterozygous state in five families (two index cases had hypocalcemia and hypoparathyroidism, respectively, and three index cases had primary hyperparathyroidism). Our study shows the utility of NGS in unravelling the genetic origin of some disorders of the calcium and phosphorus metabolism, and confirms the GCM2 gene as an important element for the maintenance of calcium homeostasis. Importantly, a novel variant in the GCM2 gene (p.(Ser487Phe)) has been found in a patient with hypocalcemia.
format	article
author	Alejandro García-Castaño Leire Madariaga Sara Gómez-Conde Carmen Lourdes Rey Cordo María López-Iglesias Yolanda Garcia-Fernández Alicia Martín Pedro González Ignacio Goicolea Gustavo Pérez de Nanclares Ana Belén De la Hoz Aníbal Aguayo Idoia Martínez de LaPiscina Rosa Martínez Laura Saso Inés Urrutia Olaia Velasco Luis Castaño Sonia Gaztambide
author_facet	Alejandro García-Castaño Leire Madariaga Sara Gómez-Conde Carmen Lourdes Rey Cordo María López-Iglesias Yolanda Garcia-Fernández Alicia Martín Pedro González Ignacio Goicolea Gustavo Pérez de Nanclares Ana Belén De la Hoz Aníbal Aguayo Idoia Martínez de LaPiscina Rosa Martínez Laura Saso Inés Urrutia Olaia Velasco Luis Castaño Sonia Gaztambide
author_sort	Alejandro García-Castaño
title	Five patients with disorders of calcium metabolism presented with GCM2 gene variants
title_short	Five patients with disorders of calcium metabolism presented with GCM2 gene variants
title_full	Five patients with disorders of calcium metabolism presented with GCM2 gene variants
title_fullStr	Five patients with disorders of calcium metabolism presented with GCM2 gene variants
title_full_unstemmed	Five patients with disorders of calcium metabolism presented with GCM2 gene variants
title_sort	five patients with disorders of calcium metabolism presented with gcm2 gene variants
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/21ec769fee1348db929c1757673e7caa
work_keys_str_mv	AT alejandrogarciacastano fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT leiremadariaga fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT saragomezconde fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT carmenlourdesreycordo fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT marialopeziglesias fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT yolandagarciafernandez fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT aliciamartin fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT pedrogonzalez fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT ignaciogoicolea fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT gustavoperezdenanclares fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT anabelendelahoz fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT anibalaguayo fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT idoiamartinezdelapiscina fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT rosamartinez fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT laurasaso fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT inesurrutia fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT olaiavelasco fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT luiscastano fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants AT soniagaztambide fivepatientswithdisordersofcalciummetabolismpresentedwithgcm2genevariants
_version_	1718392008304754688

Five patients with disorders of calcium metabolism presented with GCM2 gene variants

Ejemplares similares