European Journal of Pediatrics
NOVEL MUTATIONS ASSOCIATED WITH NEPHROGENIC DIABETES INSIPIDUS. A CLINICAL-GENETIC STUDY
Alejandro García Castaño1, Gustavo Pérez de Nanclares1, Leire Madariaga2,3, Mireia Aguirre2, Sara Chocron4, Alvaro Madrid4, Francisco Javier Lafita Tejedor5, Mercedes Gil Campos6, Jaime Sánchez del Pozo7, Rafael Ruiz Cano8, Mar Espino9, Jose Maria Gomez Vida10, Fernando Santos11, Victor Manuel García Nieto12, Reyner Loza13, Luis Miguel Rodríguez14, Emilia Hidalgo Barquero15, Nikoleta Printza16, Juan Antonio Camacho17, Luis Castaño1,3, Gema Ariceta4,18*, RenalTube Group1,11, 12ˆ.
1.BioCruces Institute, Ciberer, Cruces University Hospital, Bizkaia, Spain; 2.Paediatric Nephrology, Cruces University Hospital, Bizkaia, Spain; 3.Department of Paediatrics, School of Medicine and Odontology, University of Basque Country UPV/EHU, Bizkaia, Spain; 4.Paediatric Nephrology, University Hospital Vall d’Hebron, Barcelona, Spain; 5.Endocrinology Service, Complejo Hospitalario de Navarra, Pamplona, Spain; 6.Paediatric Research and Metabolism Unit, Reina Sofia University Hospital, Córdoba, Spain; 7.Department of Paediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, Spain; 8.Paediatric Endocrinology, Albacete General University Hospital, Albacete, Spain; 9.Paediatric Nephrology, 12 de Octubre Hospital, Madrid, Spain; 10.Department of Paediatrics, Motril Hospital, Granada, Spain; 11.Paediatric Nephrology, Asturias Central University Hospital, Oviedo, Asturias, Spain; 12.Paediatric Nephrology, Nuestra Señora de Candelaria University Hospital, Tenerife, Canarias, Spain; 13.Nephrology Unit, Cayetano Heredia University, Cayetano Heredia Hospital, Lima, Peru; 14.León Hospital, León, Spain; 15. Paediatric Nephrology Department, Materno Infantil Hospital, Badajoz, Spain; 16.Department of Paediatrics, Aristotle University of Thessaloniki, Hippokratio Hospital, Thessaloniki, Greece; 17.Paediatric Nephrology Department, Sant Joan de Déu Hospital, Barcelona, Spain; 18.Autonomous University of Barcelona, Spain.
*Corresponding author:
Gema Ariceta MD (gariceta@vhebron.net; Telephone: 932 746 000)
Paediatric Nephrology, University Hospital Vall d’Hebron, Barcelona, Spain
ˆ Membership of the RenalTube group:
Alejandro García Castaño1, Eva Braga11, Elizabeth Córdoba12, Eliecer Coto11, Enrique García11, Elena Ramos12, Flor Angel Ordóñez11, Félix Claverie12, Fernando Santos11, Gema Ariceta4,18, Gustavo Pérez de Nanclares1, Helena Gil11, Hilaria González12, Julian Rodríguez11, Luis Castaño1,3, Leire Madariaga2,3, Mireia Aguirre2, Maria Isabel Luis-Yanes12, Natalia Mejía11, Rocio Fuente11, Victoria Álvarez 11, Victor Manuel García12, Vanessa Loredo11.
Online Resource 2. PCR and sequencing primers for the analysis of the human AQP2 gene
Exon
|
*Forward primer (5´- 3´)
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*Reverse primer (5´- 3´)
|
AnnealingT (ºC)
|
Amplicon Length (bp)
|
1
|
GCGAGAGCGAGTGCCC
|
CCCAGGACCTGGCCCTTGT
|
50
|
471
|
2
|
AGGAAGATGGAGCCAGAGA
|
ACCGTCCCTCTTGGGGTCTCTGTG
|
50
|
318
|
3
|
CTTCCTGCCCTGTCCT
|
CCCCCATCCCATGCTATTCCAG
|
50
|
221
|
4
|
GGTGCCAAGCCGCCCTCTCC
|
ACCAGCGTCCGTCGGGGCCGTAG
|
50
|
278
|
According to DNA sequence (Ensembl: ENST00000199280); * Primers kindly provided by the Hôpital Européen Georges Pompidou, Service de Génétique, Paris. |
