Clinical utility gene card for: Maturity-onset diabetes of the young

Colclough, Kevin; Saint‐Martin, Cécile; Timsit, José; Ellard, Sian; Bellanné‐Chantelot, Christine

doi:10.1038/ejhg.2014.14

Cited by 30 publications

(39 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Qualitative research can reveal doctors' valuation of the test on the one hand and patients' and family members' response to an offer of genetic testing on the other hand (early experiences have been described previously). 24 The rather low rate of cascade testing found in this study might be due to a preference for phenotypic monitoring of non-diabetic relatives, as recently recommended, 25 or there may be financial or other concerns related to cascade testing. Furthermore, current use of cascade testing could be studied in more detail if clinical data were coupled to the laboratory data.…”

Section: Comparison With Other Studiesmentioning

confidence: 85%

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

et al. 2014

View full text Add to dashboard Cite

Genetic testing for maturity-onset diabetes of the young (MODY) may be relevant for treatment and prognosis in patients with usually early-onset, non-ketotic, insulin-sensitive diabetes and for monitoring strategies in non-diabetic mutation carriers. This study describes the first 10 years of genetic testing for MODY in The Netherlands in terms of volume and test positive rate, medical setting, purpose of the test and age of patients tested. Some analyses focus on the most prevalent subtype, HNF1A MODY. Data were retrospectively extracted from a laboratory database. In total, 502 individuals were identified with a pathogenic mutation in HNF4A, GCK or HNF1A between 2001 and 2010. Although mutation scanning for MODY was used at an increasing rate, cascade testing was only used for one relative, on average, per positive index patient. Testing for HNF1A MODY was mostly requested by internists and paediatricians, often from regional hospitals. Primary care physicians and clinical geneticists rarely requested genetic testing for HNF1A MODY. Clinical geneticists requested cascade testing relatively more often than other health professionals. A substantial proportion (currently 29%) of HNF1A MODY probands was at least 40 years old at the time of testing. In conclusion, the number of individuals genetically tested for MODY so far in The Netherlands is low compared with previously predicted numbers of patients. Doctors' valuation of the test and patients' and family members' response to (an offer of) genetic testing on the other hand need to be investigated. Efforts may be needed to develop and implement translational guidelines.

show abstract

Section: Comparison With Other Studiesmentioning

confidence: 85%

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

et al. 2014

View full text Add to dashboard Cite

show abstract

“…A MODY-1 előfor-dulása ritka, 2000-ig mindössze 13 családot azonosítot-tak világszerte [18]. Ellard és Colclough közlése szerint 2006-ban a HNF-4-α gén 31 mutációja volt ismert 40 családban [19], 2013-ban már 173 családban detektált 103 különböző mutációról számoltak be [20,21]. Jelenleg 112, MODY-1-et okozó mutáció ismert a Humán Gén Mutációs Adatbázis (HGMD, 2015.2) szerint.…”

Section: Monogenic Form Of Diabetes Mellitus Due To Hnf4α Mutation (Munclassified

HNF-4-α-mutáció okozta monogénes diabetes mellitus (MODY-1) első hazai esete

2016

View full text Add to dashboard Cite

A serdülő-és fiatal felnőttkorban kezdődő diabetes mellitus klasszifikációja néha nehéz. A monogénes diabetesforma felismerése az érintett betegek számára döntő jelentőségű lehet az életminőség, a prognózis és a megfelelő kezelés kiválasztása terén. A MODY (maturity-onset diabetes of the young) alcsoporton belül a MODY-1 előfordulása ritka, a nemzetközi szakirodalom szerint 2000-ig mindössze 13 családot, 2013-ig összesen 173 családot (103 különböző mutációval) azonosítottak világszerte. A szerzők a HNF-4-α gén korábban már leírt mutációján alapuló monogénes diabetesforma (MODY-1) első hazai esetét ismertetik. A 42 éves nőbeteg diabetestörténete 20 éves korában gestatiós diabetesszel indult (csak diétát tartott), majd 26 éves korában tüdőgyulladás kapcsán észlelt hyperglykaemia miatt inzulinterápiát kezdtek. A 20 éves leánya diabetesét 13 éves korában állapították meg, kezdetben 2-es típusú diabe test véleményeztek (csak diétát tartott), majd 14 éves korában a diabetestípust revideálva (1-es típusú diabetest megálla-pítva) inzulinterápiát kezdtek. A diabetesmanifesztáció körülményei, a feltűnően alacsony inzulindózis, a halmozott családi diabetes-előfordulás vetette fel a monogénes diabetes gyanúját. Mind az anyánál, mind leányánál molekuláris biológiai módszerrel igazolni lehetett a HNF-4-α gén mutációját (c.869G>A, p.R290H), ennek alapján a MODY-1 diabetes-kórforma kórisméjét. Mindkét beteg esetében az inzulinterápiát szulfanilureakezeléssel lehetett felváltani, ez a terápia az egyéves követés során kifogástalan anyagcserehelyzetet biztosított. A család elérhető tagjainál végzett szűrővizsgálat nem igazolta az indexbetegeknél talált génmutáció további előfordulását. Orv. Hetil., 2016, 157(12), 469-473.Kulcsszavak: diabetes mellitus, monogénes diabetes, MODY (maturity-onset of diabetes in the young), MODY-1, szulfanilureaterápia Monogenic form of diabetes mellitus due to HNF4α mutation (MODY-1) -the first case in HungaryThe classification of diabetes mellitus in adolescents and young adults is often difficult. The diagnosis of the monogenic form of diabetes may have substantial influence on quality of life, prognosis and the choice of the appropriate treatment of affected patients. Among MODY (maturity-onset of diabetes in the young) MODY-1 is rarely detected, only 13 families were described in 2000, and 103 different mutations in 173 families were known in 2013 worldwide. The authors present the first Hungarian case of a monogenic form of diabetes due to HNF4α mutation (MODY-1). The diabetes of the index patient No. 1 (42-year-old woman with insulin treated diabetes) was diagnosed as gestational diabetes at age of 20 when she was treated with diet only. Later, insulin treatment has been initiated when marked hyperglycaemia was detected during an episode of acute pneumonia at age of 26. The diabetes of the index patient No. 2 (20-year-old daughter of the index patient No. 1, treated also with insulin) was diagnosed as type 2 diabetes at age of 13 and the patient was treated with diet only. Later the classificati...

show abstract

“…The aforementioned findings made by linkage mapping facilitated variant identification in those genes which seemed to be responsible for familial MODY phenotypes. Since then, >620 GCK mutations, >414 HNF1A mutations, and >103 HNF4A mutations in over 1440, 1240, and 170 European Caucasian families, respectively, have been reported [6,22,23]. Yet, the true population prevalence of MODY remains ambiguous and geographically variable because of varying methods of clinical ascertainment and patient recruitment worldwide [4][5][6]24].…”

Section: Who Has Mody? Discovery Of Genetic Culprits and Estimations mentioning

confidence: 99%

“…Since then, >620 GCK mutations, >414 HNF1A mutations, and >103 HNF4A mutations in over 1440, 1240, and 170 European Caucasian families, respectively, have been reported [6,22,23]. Yet, the true population prevalence of MODY remains ambiguous and geographically variable because of varying methods of clinical ascertainment and patient recruitment worldwide [4][5][6]24]. For example, in Italy, France, and Spain, where pediatric testing for fasting blood glucose is routine practice, mild hyperglycemia as a result of GCK-MODY (5.4-8.3 mmol/l) is more frequently detected resulting in higher reported prevalence [6,7,[25][26][27][28][29].…”

Section: Potassium Channel (K Atp ) Modymentioning

confidence: 99%

“…Yet, the true population prevalence of MODY remains ambiguous and geographically variable because of varying methods of clinical ascertainment and patient recruitment worldwide [4][5][6]24]. For example, in Italy, France, and Spain, where pediatric testing for fasting blood glucose is routine practice, mild hyperglycemia as a result of GCK-MODY (5.4-8.3 mmol/l) is more frequently detected resulting in higher reported prevalence [6,7,[25][26][27][28][29]. These reports are consistent with the observation that the onset of GCK-MODY is much earlier than other MODY subtypes, particularly transcription factor MODY that is characterized by progressive beta-cell dysfunction with onset between the second and fifth decade [4].…”

Section: Who Has Mody? Discovery Of Genetic Culprits and Estimations mentioning

confidence: 99%

See 1 more Smart Citation

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

Althari¹,

Gloyn²

2015

Rev Diabet Stud

View full text Add to dashboard Cite

Clinical utility gene card for: Maturity-onset diabetes of the young

Cited by 30 publications

References 40 publications

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

HNF-4-α-mutáció okozta monogénes diabetes mellitus (MODY-1) első hazai esete

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

Contact Info

Product

Resources

About