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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F13%3A10210620%21RIV15-MSM-11130___
rdf:type
n7:Vysledek skos:Concept
rdfs:seeAlso
http://diabetes.diabetesjournals.org/content/62/3/993.long
dcterms:description
We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and exocrine pancreatic insufficiency requiring enzyme replacement therapy. We investigated the role of GATA6 mutations in 171 subjects with neonatal diabetes of unknown genetic etiology from a cohort of 795 patients with neonatal diabetes. Mutations in known genes had been confirmed in 624 patients (including 15 GATA6 mutations). Sequencing of the remaining 171 patients identified nine new case subjects (24 of 795, 3%). Pancreatic agenesis was present in 21 case subjects (six new); two patients had permanent neonatal diabetes with no enzyme supplementation and one had transient neonatal diabetes. Four parents with heterozygous GATA6 mutations were diagnosed with diabetes outside the neonatal period (12-46 years). Subclinical exocrine insufficiency was demonstrated by low fecal elastase in three of four diabetic patients who did not receive enzyme supplementation. One parent with a mosaic mutation was not diabetic but had a heart malformation. Extrapancreatic features were observed in all 24 probands and three parents, with congenital heart defects most frequent (83%). Heterozygous GATA6 mutations cause a wide spectrum of diabetes manifestations, ranging from pancreatic agenesis to adult-onset diabetes with subclinical or no exocrine insufficiency. We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and exocrine pancreatic insufficiency requiring enzyme replacement therapy. We investigated the role of GATA6 mutations in 171 subjects with neonatal diabetes of unknown genetic etiology from a cohort of 795 patients with neonatal diabetes. Mutations in known genes had been confirmed in 624 patients (including 15 GATA6 mutations). Sequencing of the remaining 171 patients identified nine new case subjects (24 of 795, 3%). Pancreatic agenesis was present in 21 case subjects (six new); two patients had permanent neonatal diabetes with no enzyme supplementation and one had transient neonatal diabetes. Four parents with heterozygous GATA6 mutations were diagnosed with diabetes outside the neonatal period (12-46 years). Subclinical exocrine insufficiency was demonstrated by low fecal elastase in three of four diabetic patients who did not receive enzyme supplementation. One parent with a mosaic mutation was not diabetic but had a heart malformation. Extrapancreatic features were observed in all 24 probands and three parents, with congenital heart defects most frequent (83%). Heterozygous GATA6 mutations cause a wide spectrum of diabetes manifestations, ranging from pancreatic agenesis to adult-onset diabetes with subclinical or no exocrine insufficiency.
dcterms:title
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency
skos:prefLabel
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency
skos:notation
RIV/00216208:11130/13:10210620!RIV15-MSM-11130___
n3:aktivita
n17:I
n3:aktivity
I
n3:cisloPeriodika
3
n3:dodaniDat
n10:2015
n3:domaciTvurceVysledku
n12:7384874 n12:3081702
n3:druhVysledku
n18:J
n3:duvernostUdaju
n15:S
n3:entitaPredkladatele
n4:predkladatel
n3:idSjednocenehoVysledku
76203
n3:idVysledku
RIV/00216208:11130/13:10210620
n3:jazykVysledku
n6:eng
n3:klicovaSlova
GATA6; neonates; diabetes
n3:klicoveSlovo
n8:neonates n8:GATA6 n8:diabetes
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[60B5ECA1960C]
n3:nazevZdroje
Diabetes
n3:obor
n19:EB
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
18
n3:rokUplatneniVysledku
n10:2013
n3:svazekPeriodika
62
n3:tvurceVysledku
Ellard, Sian Oostdijk, W. Shaw-Smith, Charles Hennekem, V. Akkurt, I. De Franco, Elisa Cinek, Ondřej Savova, R. Šumník, Zdeněk Tinklin, T. Flanagan, Sarah Wagner, V. Hakeem, V. Knerr, I. Blessing, H. Thiele, S. Sheperd, Maggie Hattersley, Andrew
n3:wos
000315556400043
s:issn
0012-1797
s:numberOfPages
5
n5:doi
10.2337/db12-0885
n14:organizacniJednotka
11130