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Article: A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene

TitleA family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene
Authors
KeywordsBlindness
Compound heterozygote
LRP5
Osteoporosis
Osteoporosis pseudoglioma
Issue Date2006
PublisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/bone
Citation
Bone, 2006, v. 39 n. 3, p. 470-476 How to Cite?
AbstractOsteoporosis pseudoglioma syndrome (OPPG) is an autosomal recessive disorder due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Here, we report two novel missense mutations found in a southern Chinese family of a non-consanguineous marriage. Three out of four children had blindness, low bone mineral density (BMD) and multiple fractures in their childhood. Genotyping by DNA sequencing demonstrated 2 new mutations in exon 7 of the LRP5 gene. Tryptophans at amino acid residue positions 478 and 504 were replaced by arginine (W478R) and cysteine (W504C), respectively. While the parents that possessed either heterozygous W478R or W504C were apparently normal, all affected subjects were compound heterozygotes for the W478R and W504C mutations in the LRP5 gene. W478R is located immediately C-terminal to the third YWTD repeat of the second YWTD/EGF domain in LRP5, while W504C is located between the third and the fourth YWTD repeats of the second YWTD/EGF domain in LRP5. Using LRP5-related proteins, such as the low-density lipoprotein receptor (LDLR) and nidogen as reference models, a homology model of LRP5 suggested that the observed mutations may affect the molecular interactions of LRP5 and so lead to the observed OPPG phenotypes. © 2006 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/77292
ISSN
2015 Impact Factor: 3.736
2015 SCImago Journal Rankings: 1.752
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCheung, WMWen_HK
dc.contributor.authorJin, LYen_HK
dc.contributor.authorSmith, DKen_HK
dc.contributor.authorCheung, PTen_HK
dc.contributor.authorKwan, EYWen_HK
dc.contributor.authorLow, Len_HK
dc.contributor.authorKung, AWCen_HK
dc.date.accessioned2010-09-06T07:30:19Z-
dc.date.available2010-09-06T07:30:19Z-
dc.date.issued2006en_HK
dc.identifier.citationBone, 2006, v. 39 n. 3, p. 470-476en_HK
dc.identifier.issn8756-3282en_HK
dc.identifier.urihttp://hdl.handle.net/10722/77292-
dc.description.abstractOsteoporosis pseudoglioma syndrome (OPPG) is an autosomal recessive disorder due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Here, we report two novel missense mutations found in a southern Chinese family of a non-consanguineous marriage. Three out of four children had blindness, low bone mineral density (BMD) and multiple fractures in their childhood. Genotyping by DNA sequencing demonstrated 2 new mutations in exon 7 of the LRP5 gene. Tryptophans at amino acid residue positions 478 and 504 were replaced by arginine (W478R) and cysteine (W504C), respectively. While the parents that possessed either heterozygous W478R or W504C were apparently normal, all affected subjects were compound heterozygotes for the W478R and W504C mutations in the LRP5 gene. W478R is located immediately C-terminal to the third YWTD repeat of the second YWTD/EGF domain in LRP5, while W504C is located between the third and the fourth YWTD repeats of the second YWTD/EGF domain in LRP5. Using LRP5-related proteins, such as the low-density lipoprotein receptor (LDLR) and nidogen as reference models, a homology model of LRP5 suggested that the observed mutations may affect the molecular interactions of LRP5 and so lead to the observed OPPG phenotypes. © 2006 Elsevier Inc. All rights reserved.en_HK
dc.languageengen_HK
dc.publisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/boneen_HK
dc.relation.ispartofBoneen_HK
dc.rightsBone. Copyright © Elsevier Inc.en_HK
dc.subjectBlindnessen_HK
dc.subjectCompound heterozygoteen_HK
dc.subjectLRP5en_HK
dc.subjectOsteoporosisen_HK
dc.subjectOsteoporosis pseudogliomaen_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshBase Sequenceen_HK
dc.subject.meshChilden_HK
dc.subject.meshEpidermal Growth Factor - chemistry - metabolismen_HK
dc.subject.meshExons - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGlioma - complications - genetics - metabolism - pathologyen_HK
dc.subject.meshHeterozygoteen_HK
dc.subject.meshHumansen_HK
dc.subject.meshIntrons - geneticsen_HK
dc.subject.meshLDL-Receptor Related Proteins - chemistry - genetics - metabolismen_HK
dc.subject.meshLow Density Lipoprotein Receptor-Related Protein-5en_HK
dc.subject.meshMaleen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshModels, Molecularen_HK
dc.subject.meshMutation - geneticsen_HK
dc.subject.meshOsteoporosis - complications - genetics - metabolism - pathologyen_HK
dc.subject.meshPedigreeen_HK
dc.subject.meshPolymorphism, Genetic - geneticsen_HK
dc.subject.meshProtein Structure, Quaternaryen_HK
dc.subject.meshSyndromeen_HK
dc.titleA family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 geneen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=8756-3282&volume=39&spage=470&epage=6&date=2006&atitle=A+family+with+osteoporosis+pseudoglioma+syndrome+due+to+compound+heterozygosity+of+two+novel+mutations+in+the+LRP5+geneen_HK
dc.identifier.emailCheung, PT: ptcheung@hku.hken_HK
dc.identifier.emailLow, L: lcklow@hkucc.hku.hken_HK
dc.identifier.emailKung, AWC: awckung@hku.hken_HK
dc.identifier.authorityCheung, PT=rp00351en_HK
dc.identifier.authorityLow, L=rp00337en_HK
dc.identifier.authorityKung, AWC=rp00368en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.bone.2006.02.069en_HK
dc.identifier.pmid16679074-
dc.identifier.scopuseid_2-s2.0-33746619237en_HK
dc.identifier.hkuros118430en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33746619237&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume39en_HK
dc.identifier.issue3en_HK
dc.identifier.spage470en_HK
dc.identifier.epage476en_HK
dc.identifier.isiWOS:000240113900006-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridCheung, WMW=7202743069en_HK
dc.identifier.scopusauthoridJin, LY=36555301600en_HK
dc.identifier.scopusauthoridSmith, DK=7410351143en_HK
dc.identifier.scopusauthoridCheung, PT=7202595465en_HK
dc.identifier.scopusauthoridKwan, EYW=7006484387en_HK
dc.identifier.scopusauthoridLow, L=7007049461en_HK
dc.identifier.scopusauthoridKung, AWC=7102322339en_HK

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