Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

No Thumbnail Available
Authors
Laver, T. W.
Wakeling, M. N.
Hua, J. H.Y.
Houghton, Jayne A. L.
Hussain, K.
Ellard, Sian
Flanagan, S. E.
Journal
Clinical endocrinology
Type
Journal Article
Publisher
Wiley
Rights
Archived with thanks to Clinical endocrinology
Hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or more rarely feature as part of a syndrome. Screening for mutations in the "syndromic" HH genes is guided by phenotype with genetic testing used to confirm the clinical diagnosis. As HH can be the presenting feature of a syndrome, it is possible that mutations will be missed as these genes are not routinely screened in all newly diagnosed individuals. We investigated the frequency of pathogenic variants in syndromic genes in infants with HH who had not been clinically diagnosed with a syndromic disorder at referral for genetic testing.
Citation
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. 2018 Nov;89(5):621-627 Clin. Endocrinol. (Oxf)
Note