The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation.
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic and genetic changes affecting imprinted genes on chromosome 11p15.5. Hypomethylation of KvDMR1 on the maternal allele is the most common genetic cause, and hyperinsulinaemic hypoglycaemia (HH) is the most common biochemical abnormality. We evaluated the correlation between severity of HH and degree of hypomethylation in BWS. Out of the 19 patients with BWS due to KvDMR1 hypomethylation, 10 patients had no HH, 5 had mild transient HH that resolved spontaneously, and 4 required diazoxide therapy for up to 6 months. There was no correlation between the degree of KvDMR1 hypomethylation and severity of HH in the 6 patients studied. All patients also showed marked clinical heterogeneity with respect to the features of BWS. In patients with BWS due to hypomethylation of KvDMR1, the clinical presentation of HH is quite heterogeneous with no correlation with the degree of KvDMR1 hypomethylation.
Senthil
S
Senniappan
Dunia
D
Ismail
Caroleen
C
Shipster
Clare
C
Beesley
Khalid
K
Hussain
D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D015331:Cohort Studies; D044903:Congenital Hyperinsulinism / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D019175:DNA Methylation; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics
C485621:KCNQ1OT1 long non-coding RNA, human; D024642:Potassium Channels, Voltage-Gated