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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F14%3A10292816%21RIV15-MSM-11130___
rdf:type
skos:Concept n13:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1186/1755-8166-7-17
dcterms:description
Background: Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less well recognized. We studied genotype and phenotype of three newly identified children with 14q22q23 deletions, two girls and one boy with bilateral anophthalmia, and compared them with previously published deletion patients and individuals with intragenic defects in genes residing in the region. Results: The three deletions were de novo and ranged in size between 5.8 and 8.9 Mb. All three children lacked one copy of the OTX2 gene and in one of them the deletion involved also the BMP4 gene. All three patients presented partial conductive hearing loss which tended to improve with age. Analysis of endocrine and growth phenotypes showed undetectable anterior pituitary, growth hormone deficiency and progressive growth retardation in all three patients. Growth hormone therapy led to partial catch-up growth in two of the three patients but just prevented further height loss in the third. Conclusions: The pituitary hypoplasia, growth hormone deficiency and growth retardation associated with 14q22q23 microdeletions are very remarkable, and the latter appears to have an atypical response to growth hormone therapy in some of the cases. Background: Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less well recognized. We studied genotype and phenotype of three newly identified children with 14q22q23 deletions, two girls and one boy with bilateral anophthalmia, and compared them with previously published deletion patients and individuals with intragenic defects in genes residing in the region. Results: The three deletions were de novo and ranged in size between 5.8 and 8.9 Mb. All three children lacked one copy of the OTX2 gene and in one of them the deletion involved also the BMP4 gene. All three patients presented partial conductive hearing loss which tended to improve with age. Analysis of endocrine and growth phenotypes showed undetectable anterior pituitary, growth hormone deficiency and progressive growth retardation in all three patients. Growth hormone therapy led to partial catch-up growth in two of the three patients but just prevented further height loss in the third. Conclusions: The pituitary hypoplasia, growth hormone deficiency and growth retardation associated with 14q22q23 microdeletions are very remarkable, and the latter appears to have an atypical response to growth hormone therapy in some of the cases.
dcterms:title
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
skos:prefLabel
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
skos:notation
RIV/00216208:11130/14:10292816!RIV15-MSM-11130___
n3:aktivita
n19:I
n3:aktivity
I
n3:cisloPeriodika
neuveden
n3:dodaniDat
n8:2015
n3:domaciTvurceVysledku
n6:3081702 n6:4701895 n6:1038745 n6:6858430 n6:1050397 n6:9373640
n3:druhVysledku
n4:J
n3:duvernostUdaju
n11:S
n3:entitaPredkladatele
n15:predkladatel
n3:idSjednocenehoVysledku
3337
n3:idVysledku
RIV/00216208:11130/14:10292816
n3:jazykVysledku
n16:eng
n3:klicovaSlova
Growth hormone therapy; Pituitary; Hearing loss; OTX2; 14q22q23 microdeletion; Anophthalmia
n3:klicoveSlovo
n9:14q22q23%20microdeletion n9:Growth%20hormone%20therapy n9:Anophthalmia n9:OTX2 n9:Hearing%20loss n9:Pituitary
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[4CBE0635CF19]
n3:nazevZdroje
Molecular Cytogenetics
n3:obor
n17:EB
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
15
n3:rokUplatneniVysledku
n8:2014
n3:svazekPeriodika
7
n3:tvurceVysledku
Goossens, Michel Simandlová, Martina Tachdjian, Gerard Šumník, Zdeněk Labrune, Philippe Dušátková, Petra Tosca, Lucie Slámová, Zuzana Briand-Suleau, Audrey Metay, Corinne Brisset, Sophie Lebl, Jan Sedláček, Zdeněk Zemankova, Elsa Milcent, Karen
n3:wos
000333270100002
s:issn
1755-8166
s:numberOfPages
7
n14:doi
10.1186/1755-8166-7-17
n18:organizacniJednotka
11130