Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

2.50
Hdl Handle:
http://hdl.handle.net/11287/594000
Title:
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
Authors:
Mulchandani, S.; Bhoj, E. J.; Luo, M.; Powell-Hamilton, N.; Jenny, K.; Gripp, K. W.; Elbracht, M.; Eggermann, T.; Turner, Claire L.; Temple, I. K.; Mackay, D. J.; Dubbs, H.; Stevenson, D. A.; Slattery, L.; Zackai, E. H.; Spinner, N. B.; Krantz, I. D.; Conlin, L. K.
Abstract:
PURPOSE: Maternal uniparental disomy of chromosome 20 (UPD(20)mat) has been reported in only four patients, three of whom also had mosaicism for complete or partial trisomy of chromosome 20. We sought to evaluate the clinical significance of isolated UPD(20)mat in eight individuals. METHODS: We evaluated phenotypic and genomic findings of a series of eight new patients with UPD(20)mat. RESULTS: All eight individuals with UPD(20)mat had intrauterine growth restriction, short stature, and prominent feeding difficulties with failure to thrive. As a common feature, they often required gastric tube feeds. Genomic data in most patients are indicative of UPD as a result of trisomy rescue after meiosis II nondisjunction. CONCLUSION: We describe the first natural history of the disorder and the results of therapeutic interventions, including the frequent requirement of direct gastric feedings only during the first few years of life, and propose that growth hormone supplementation is probably safe and effective for this condition. We suggest that UPD(20)mat can be regarded as a new imprinting disorder and its identification requires specialized molecular testing, which should be performed in patients with early-onset idiopathic isolated growth failure.Genet Med advance online publication 06 August 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.103.
Citation:
Genet Med. 2016 Apr;18(4):309-15.
Publisher:
Nature
Journal:
Genetics in medicine : official journal of the American College of Medical Genetics
Issue Date:
6-Aug-2015
URI:
http://hdl.handle.net/11287/594000
DOI:
10.1038/gim.2015.103
PubMed ID:
26248010
Additional Links:
http://dx.doi.org/10.1038/gim.2015.103
Type:
Journal Article
Language:
Eng
ISSN:
1530-0366
Appears in Collections:
2015 RD&E publications; Clinical Genetics (Peninsula Genetics); Research & Development staff

Full metadata record

DC FieldValue Language
dc.contributor.authorMulchandani, S.en
dc.contributor.authorBhoj, E. J.en
dc.contributor.authorLuo, M.en
dc.contributor.authorPowell-Hamilton, N.en
dc.contributor.authorJenny, K.en
dc.contributor.authorGripp, K. W.en
dc.contributor.authorElbracht, M.en
dc.contributor.authorEggermann, T.en
dc.contributor.authorTurner, Claire L.en
dc.contributor.authorTemple, I. K.en
dc.contributor.authorMackay, D. J.en
dc.contributor.authorDubbs, H.en
dc.contributor.authorStevenson, D. A.en
dc.contributor.authorSlattery, L.en
dc.contributor.authorZackai, E. H.en
dc.contributor.authorSpinner, N. B.en
dc.contributor.authorKrantz, I. D.en
dc.contributor.authorConlin, L. K.en
dc.date.accessioned2016-01-19T12:38:26Zen
dc.date.available2016-01-19T12:38:26Zen
dc.date.issued2015-08-06en
dc.identifier.citationGenet Med. 2016 Apr;18(4):309-15.en
dc.identifier.issn1530-0366en
dc.identifier.pmid26248010en
dc.identifier.doi10.1038/gim.2015.103en
dc.identifier.urihttp://hdl.handle.net/11287/594000en
dc.description.abstractPURPOSE: Maternal uniparental disomy of chromosome 20 (UPD(20)mat) has been reported in only four patients, three of whom also had mosaicism for complete or partial trisomy of chromosome 20. We sought to evaluate the clinical significance of isolated UPD(20)mat in eight individuals. METHODS: We evaluated phenotypic and genomic findings of a series of eight new patients with UPD(20)mat. RESULTS: All eight individuals with UPD(20)mat had intrauterine growth restriction, short stature, and prominent feeding difficulties with failure to thrive. As a common feature, they often required gastric tube feeds. Genomic data in most patients are indicative of UPD as a result of trisomy rescue after meiosis II nondisjunction. CONCLUSION: We describe the first natural history of the disorder and the results of therapeutic interventions, including the frequent requirement of direct gastric feedings only during the first few years of life, and propose that growth hormone supplementation is probably safe and effective for this condition. We suggest that UPD(20)mat can be regarded as a new imprinting disorder and its identification requires specialized molecular testing, which should be performed in patients with early-onset idiopathic isolated growth failure.Genet Med advance online publication 06 August 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.103.en
dc.language.isoEngen
dc.publisherNatureen
dc.relation.urlhttp://dx.doi.org/10.1038/gim.2015.103en
dc.titleMaternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureen
dc.typeJournal Articleen
dc.identifier.journalGenetics in medicine : official journal of the American College of Medical Geneticsen

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