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 Nonstandard abbreviations: FG, fasting glucose; IMI, Innovative Medicines Initiative; GDM, gestational diabetes mellitus; OR, odds ratio; LGA, large for gestational age; BMI, body mass index; IV, instrumental variable; MODY, maturity-onset diabetes of the young
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(8) Another example where the specific genetic variant determines clinical presentation and treatment response is maturity-onset diabetes of the young
Phenotypic characteristics of early-onset autosomal-dominant type 2 diabetes unlinked to known maturity-onset diabetes of the young
Mapping will help in specific forms of diabetes that are related to single gene disorders, such as maturity-onset diabetes of the young
. But those cases are very rare.
This rare, inherited form of NIDDM is known as maturity-onset diabetes of the young
, or MODY.
Monogenic diabetes may present as neonatal diabetes (onset within six months of life) or MODY (maturity-onset diabetes of the young
) (onset before age 25 years).
Maturity-onset diabetes of the young
(MODY) is a rare monogenic form of diabetes mellitus that accounts for 2-5% of total diabetes cases and is often misdiagnosed as another type of diabetes [1-3].
Our patient with hyperglycemia and dysmorphic features had a deletion of 7.23 Mb comprising the region 7p13-p12.1, with involvement of 39 Online Mendelian Inheritance in Man genes, including glucokinase associated with maturity-onset diabetes of the young
, CCM2 associated with type 2 cerebral cavernous malformations, insulin-like growth factors binding protein-3 associated with decreased postnatal growth, and oxoglutarate dehydrogenase associated with alpha-ketoglutarate dehydrogenase deficiency (short stature, hypotonia, cognitive impairment, and movement abnormalities).