A 12q24.31 interstitial deletion in an adult male with MODY3: Neuropsychiatric and neuropsychological characteristics

Abstract

A 39-year-old male patient with a disharmonic intelligence profile and juvenile diabetes mellitus is described. At 14 months of age, minor facial dysmorphisms were noticed. He had delayed motor development, obesity at early age, and a diagnosis of insulin-dependent diabetes at the age of 10 years. He successfully completed secondary education and has been engaged in unskilled work activities, living independently. Upon examination, no psychiatric symptoms were present and his neuropsychological profile showed normal, although disharmonic, intellectual capacities and suboptimal social cognition. Genome wide array analysis identified an interstitial 12q24.31 deletion of 1.67 Mb encompassing hepatocyte nuclear factor-1-alpha gene (HNF1A), supporting a diagnosis of maturity-onset diabetes of the young. Results are discussed in relation to the few identified or published overlapping deletions. This is the first patient with normal intelligence in whom the presence of subtle facial dysmorphisms were decisive for introducing genetic analysis that, in turn, disclosed a rare form of diabetes necessitating modifications in treatment regimen. Clinicians, including those involved in psychiatry, should be aware of the diagnostic and prognostic value of atypical physical features in patients with a long history of complicated glucose regulation.

Integrated multifactor analysis explores core dysfunctional modules in autism spectrum disorder

“…And HNF1A, POU2F1 significantly regulated blue and yellow , blue and darkred , respectively. It has been showed that HNF1A is associated with neuropsychiatric and neuropsychological characteristics 26 , 27 . The alternative promoter usage and differential expression of POU2F1 transcript variants has an impact on cerebellar development 28 , lens and olfactory placode development 29 .…”

Maturity onset diabetes of the young: Diagnosis and treatment options

“…The condition may also be associated with hepatic adenomatosis, bile acid synthesis alteration, decreased pancreatic volume, pancreatic dysfunction and other diseases [37,38,[55][56][57][58]. The patients also have elevated urinary glucose due to low renal threshold for glucose in this genetic subtype [59].…”