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A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype

Show simple item record Sanjad S.A. Hariri A. Habbal Z.M. Lifton R.P.
dc.contributor.editor Apr-2007 2017-10-05T16:01:28Z 2017-10-05T16:01:28Z 2007
dc.identifier 10.1007/s00467-006-0354-5
dc.description.abstract Familial hypomagnesemic hypercalciuria and nephrocalcinosis (FHHNC [MIM 248250]) is a rare renal tubular disorder characterized by impaired reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop (tALH), causing renal magnesium wasting and hypercalciuria. Patients with FHHNC usually present with recurrent urinary tract infections, polyuria, nephrolithiasis (NL) and nephrocalcinosis (NC) with many progressing to chronic renal failure (CRF). We have shown recently that loss of function mutations in paracellin-1 PCLN-1- claudin-16, a renal tight junction protein located in the TAL, are causative of FHHNC. We present clinical and molecular studies on a highly inbred family with FHHNC in association with an unusual phenotype in that all affected members were extremely short. Affected individuals were found to be homozygous for marker D3S1314 on chromosome 3q. Sequencing of the PCLN-1-claudin-16 gene revealed a previously unknown point mutation at S235Y on exon 4 on the 4th transmembrane domain, providing additional evidence that inactivating mutations in the PCLN-1- claudin-16 gene result in FHHNC. © IPNA 2006.
dc.format.extent Pages: (503-508)
dc.language English
dc.publisher NEW YORK
dc.relation.ispartof Publication Name: Pediatric Nephrology; Publication Year: 2007; Volume: 22; no. 4; Pages: (503-508);
dc.source Scopus
dc.title A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype
dc.type Article
dc.contributor.affiliation Sanjad, S.A., Department of Pediatrics (SAS), American University of Beirut Medical Center, P.O. Box 11-0236, Beirut, Lebanon, Department of Pediatrics-Nephrology, American University of Beirut, Medical Center, P.O. Box 11-0236, Beirut, Lebanon
dc.contributor.affiliation Hariri, A., Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine, New Haven, CT, United States
dc.contributor.affiliation Habbal, Z.M., Department of Pediatrics (SAS), American University of Beirut Medical Center, P.O. Box 11-0236, Beirut, Lebanon
dc.contributor.affiliation Lifton, R.P., Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine, New Haven, CT, United States
dc.contributor.authorAddress Sanjad, S.A.; Department of Pediatrics-Nephrology, American University of Beirut, Medical Center, P.O. Box 11-0236, Beirut, Lebanon; email:
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Pediatrics and Adolescent Medicine;
dc.contributor.authorDepartment Pediatrics and Adolescent Medicine
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Sanjad, SA
dc.contributor.authorInitials Hariri, A
dc.contributor.authorInitials Habbal, ZM
dc.contributor.authorInitials Lifton, RP
dc.contributor.authorReprintAddress Sanjad, SA (reprint author), Amer Univ Beirut, Med Ctr, Dept Pediat Nephrol, POB 11-0236, Beirut, Lebanon.
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 6
dc.description.citedTotWOSCount 6
dc.description.citedWOSCount 6
dc.format.extentCount 6
dc.identifier.coden PEDNE
dc.identifier.pubmedID 17123117
dc.identifier.scopusID 33847356538
dc.publisher.address 233 SPRING STREET, NEW YORK, NY 10013 USA
dc.relation.ispartOfISOAbbr Pediatr. Nephrol.
dc.relation.ispartOfIssue 4
dc.relation.ispartofPubTitle Pediatric Nephrology
dc.relation.ispartofPubTitleAbbr Pediatr. Nephrol.
dc.relation.ispartOfVolume 22
dc.source.ID WOS:000244452800005
dc.type.publication Journal
dc.subject.otherAuthKeyword Claudin-16
dc.subject.otherAuthKeyword Familial hypomagnesemia-hypercalciuria
dc.subject.otherAuthKeyword Nephrocalcinosis
dc.subject.otherAuthKeyword Paracellin-1
dc.subject.otherAuthKeyword Renal failure
dc.subject.otherAuthKeyword Short stature
dc.subject.otherChemCAS calcium, 7440-70-2
dc.subject.otherChemCAS growth hormone, 36992-73-1, 37267-05-3, 66419-50-9, 9002-72-6
dc.subject.otherChemCAS magnesium, 7439-95-4
dc.subject.otherChemCAS parathyroid hormone, 12584-96-2, 68893-82-3, 9002-64-6
dc.subject.otherChemCAS serine, 56-45-1, 6898-95-9
dc.subject.otherChemCAS somatomedin C, 67763-96-6
dc.subject.otherChemCAS tyrosine, 16870-43-2, 55520-40-6, 60-18-4
dc.subject.otherChemCAS uric acid, 69-93-2
dc.subject.otherChemCAS Magnesium, 7439-95-4
dc.subject.otherChemCAS Membrane Proteins
dc.subject.otherChemCAS claudin 16
dc.subject.otherIndex calcium
dc.subject.otherIndex claudin
dc.subject.otherIndex claudin 16
dc.subject.otherIndex growth hormone
dc.subject.otherIndex magnesium
dc.subject.otherIndex paracellin 1
dc.subject.otherIndex parathyroid hormone
dc.subject.otherIndex serine
dc.subject.otherIndex somatomedin C
dc.subject.otherIndex tyrosine
dc.subject.otherIndex unclassified drug
dc.subject.otherIndex uric acid
dc.subject.otherIndex adolescent
dc.subject.otherIndex adult
dc.subject.otherIndex article
dc.subject.otherIndex calcium excretion
dc.subject.otherIndex child
dc.subject.otherIndex chromosome 3q
dc.subject.otherIndex chronic kidney failure
dc.subject.otherIndex controlled study
dc.subject.otherIndex exon
dc.subject.otherIndex familial disease
dc.subject.otherIndex female
dc.subject.otherIndex gene sequence
dc.subject.otherIndex genetic association
dc.subject.otherIndex genotype
dc.subject.otherIndex growth hormone blood level
dc.subject.otherIndex homozygote
dc.subject.otherIndex human
dc.subject.otherIndex hypercalciuria
dc.subject.otherIndex hypomagnesemia
dc.subject.otherIndex inbreeding
dc.subject.otherIndex kidney calcification
dc.subject.otherIndex magnesium excretion
dc.subject.otherIndex major clinical study
dc.subject.otherIndex male
dc.subject.otherIndex missense mutation
dc.subject.otherIndex nephrolithiasis
dc.subject.otherIndex parathyroid hormone blood level
dc.subject.otherIndex phenotype
dc.subject.otherIndex point mutation
dc.subject.otherIndex priority journal
dc.subject.otherIndex short stature
dc.subject.otherIndex tight junction
dc.subject.otherIndex uric acid blood level
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Adult
dc.subject.otherIndex Child
dc.subject.otherIndex Child, Preschool
dc.subject.otherIndex Female
dc.subject.otherIndex Genotype
dc.subject.otherIndex Humans
dc.subject.otherIndex Hypercalciuria
dc.subject.otherIndex Magnesium
dc.subject.otherIndex Magnesium Deficiency
dc.subject.otherIndex Male
dc.subject.otherIndex Membrane Proteins
dc.subject.otherIndex Nephrocalcinosis
dc.subject.otherIndex Nephrolithiasis
dc.subject.otherIndex Pedigree
dc.subject.otherIndex Phenotype
dc.subject.otherIndex Point Mutation
dc.subject.otherIndex Tight Junctions
dc.subject.otherKeywordPlus PARACELLIN-1 GENE
dc.subject.otherKeywordPlus TUBULAR-ACIDOSIS
dc.subject.otherKeywordPlus NEPHROCALCINOSIS
dc.subject.otherKeywordPlus MAGNESIUM
dc.subject.otherKeywordPlus HORMONE
dc.subject.otherKeywordPlus LIMB
dc.subject.otherWOS Pediatrics
dc.subject.otherWOS Urology and Nephrology

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