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Statements

Subject Item
n2:RIV%2F00216208%3A11140%2F12%3A10132679%21RIV13-MSM-11140___
rdf:type
skos:Concept n13:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1111/j.1399-5448.2012.00855.x
dcterms:description
Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life, and is usually monogenic in origin. Heterozygous mutations in ABCC8, KCNJ11, and INS genes account for around half of cases of PNDM; mutations in 10 further genes account for a further 10%, and the remaining 40% of cases are currently without a molecular genetic diagnosis. Thiamine-responsive megaloblastic anaemia (TRMA), due to mutations in the thiamine transporter SLC19A2, is associated with the classical clinical triad of diabetes, deafness, and megaloblastic anaemia. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes. We used a combination of homozygosity mapping and evaluation of clinical information to identify cases of TRMA from our cohort of patients with PNDM. Homozygous mutations in SLC19A2 were identified in three cases in which diabetes presented in the first 6 months of life, and a further two cases in which diabetes presented between 6 and 12 months of age. We noted the presence of a significant neurological disorder in four of the five cases in our series, prompting us to examine the incidence of these and other non-classical clinical features in TRMA. From 30 cases reported in the literature, we found significant neurological deficit (stroke, focal, or generalized epilepsy) in 27%, visual system disturbance in 43%, and cardiac abnormalities in 27% of cases. TRMA should be considered in the differential diagnosis of diabetes presenting in the neonatal period. Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life, and is usually monogenic in origin. Heterozygous mutations in ABCC8, KCNJ11, and INS genes account for around half of cases of PNDM; mutations in 10 further genes account for a further 10%, and the remaining 40% of cases are currently without a molecular genetic diagnosis. Thiamine-responsive megaloblastic anaemia (TRMA), due to mutations in the thiamine transporter SLC19A2, is associated with the classical clinical triad of diabetes, deafness, and megaloblastic anaemia. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes. We used a combination of homozygosity mapping and evaluation of clinical information to identify cases of TRMA from our cohort of patients with PNDM. Homozygous mutations in SLC19A2 were identified in three cases in which diabetes presented in the first 6 months of life, and a further two cases in which diabetes presented between 6 and 12 months of age. We noted the presence of a significant neurological disorder in four of the five cases in our series, prompting us to examine the incidence of these and other non-classical clinical features in TRMA. From 30 cases reported in the literature, we found significant neurological deficit (stroke, focal, or generalized epilepsy) in 27%, visual system disturbance in 43%, and cardiac abnormalities in 27% of cases. TRMA should be considered in the differential diagnosis of diabetes presenting in the neonatal period.
dcterms:title
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia
skos:prefLabel
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia
skos:notation
RIV/00216208:11140/12:10132679!RIV13-MSM-11140___
n13:predkladatel
n14:orjk%3A11140
n3:aktivita
n7:I
n3:aktivity
I
n3:cisloPeriodika
4
n3:dodaniDat
n16:2013
n3:domaciTvurceVysledku
n15:8586543
n3:druhVysledku
n4:J
n3:duvernostUdaju
n19:S
n3:entitaPredkladatele
n5:predkladatel
n3:idSjednocenehoVysledku
164382
n3:idVysledku
RIV/00216208:11140/12:10132679
n3:jazykVysledku
n12:eng
n3:klicovaSlova
thiamine-sensitive megaloblastic anaemia; SLC19A2; neurocognitive features; neonatal diabetes; homozygosity mapping
n3:klicoveSlovo
n6:homozygosity%20mapping n6:thiamine-sensitive%20megaloblastic%20anaemia n6:SLC19A2 n6:neonatal%20diabetes n6:neurocognitive%20features
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[2C40CD5F4AE5]
n3:nazevZdroje
Pediatric Diabetes
n3:obor
n17:FB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
11
n3:rokUplatneniVysledku
n16:2012
n3:svazekPeriodika
13
n3:tvurceVysledku
Shaw-Smith, Charles Habeb, Abdelhadi M. Grulich-Henn, Juergen Flanagan, Sarah E. Patch, Ann-Marie Hattersley, Andrew T. Hussain, Khalid Matyka, Krystyna Ellard, Sian Abdullah, Mohamed Pomahačová, Renata
n3:wos
000304597100004
s:issn
1399-543X
s:numberOfPages
8
n20:doi
10.1111/j.1399-5448.2012.00855.x
n18:organizacniJednotka
11140