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A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

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dc.contributor.authorDAĞÇINAR, ADNAN
dc.contributor.authorsEltan, Mehmet; Alavanda, Ceren; Yavas Abali, Zehra; Ergenekon, Pinar; Yalindag Ozturk, Nilufer; Sakar, Mustafa; Dagcinar, Adnan; Kirkgoz, Tarik; Kaygusuz, Sare Betul; Gokdemir, Yasemin; Elcioglu, Huriye Nursel; Guran, Tulay; Bereket, Abdullah; Ata, Pinar; Turan, Serap
dc.date.accessioned2022-03-14T10:52:53Z
dc.date.available2022-03-14T10:52:53Z
dc.date.issued2020-07
dc.description.abstractRaine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was born with a weight of 3800 g to non-consanguineous parents. Prenatal ultrasound had demonstrated nasal bone agenesis. A large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, and corneal opacification were detected on physical examination. Serial skeletal X-rays revealed diffuse osteosclerosis at birth which was gradually decreased by the age of 5 months with subperiosteal undermineralized bone formation and medullary space of long bone could be distinguishable with bone-within-a-bone appearance. At 9 months of age, hand X-ray revealed cupping of the ulna with loose radial bone margin with minimal fraying and osteopenia. Cranial computed tomography scan showed bilateral periventricular calcification and hydrocephalus in progress. The clinical, laboratory, and radiological examinations were consistent with RS. Molecular analyses revealed a compound heterozygous mutation in FAM20C gene (a known pathogenic mutation, c.1645C > T, p.Arg549Trp; and a novel c.863 + 5 G > C variant). The patient died due to respiratory failure at 17 months of age. This case allowed us to demonstrate natural progression of skeletal features in RS. Furthermore, we have described a novel FAM20C variant causing RS. Previous literature on RS is also reviewed.
dc.identifier.doi10.1007/s00223-020-00694-3
dc.identifier.eissn1432-0827
dc.identifier.issn0171-967X
dc.identifier.pubmed32337609
dc.identifier.urihttps://hdl.handle.net/11424/245251
dc.identifier.wosWOS:000528971100001
dc.language.isoeng
dc.publisherSPRINGER
dc.relation.ispartofCALCIFIED TISSUE INTERNATIONAL
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectFAM20C
dc.subjectHypophosphatemia
dc.subjectRaine syndrome
dc.subjectRickets
dc.subjectOsteosclerosis
dc.subjectHypophosphatemic rickets
dc.subjectBone
dc.subjectOSTEOSCLEROTIC BONE DYSPLASIA
dc.subjectINTRACRANIAL CALCIFICATION
dc.subjectHYPOPLASTIC NOSE
dc.subjectFAM20C GENE
dc.subjectMUTATIONS
dc.subjectPHOSPHORYLATION
dc.subjectDELINEATION
dc.subjectDEFECTS
dc.subjectPATIENT
dc.subjectCELLS
dc.titleA Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age
dc.typearticle
dspace.entity.typePublication
local.avesis.id254f495e-49b5-4405-a06c-7b60cce9a761
local.import.packageSS16
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages8
local.journal.quartileQ2
oaire.citation.endPage103
oaire.citation.issue1
oaire.citation.startPage96
oaire.citation.titleCALCIFIED TISSUE INTERNATIONAL
oaire.citation.volume107
relation.isAuthorOfPublication53e7d31c-a13c-42de-bbf1-385a42bc6589
relation.isAuthorOfPublication.latestForDiscovery53e7d31c-a13c-42de-bbf1-385a42bc6589

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