Hyperinsulinism

Gene: KMT2D

Green List (high evidence)

Four further individuals with KMT2D-associated neurodevelopmental syndrome reported. Features include: athelia (absent nipples), choanal atresia, hypoparathyroidism, delayed or absent pubertal development, and extreme short stature. Two of the four individuals had severe interstitial lung disease.

Created: 7 Sep 2020, 7:37 a.m. | Last Modified: 7 Sep 2020, 7:37 a.m.

Panel Version: 0.4262

The association between LoF variants in KMT2D and Kabuki syndrome is well established. Note new association between missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism. - 7 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.

Created: 4 Jun 2020, 2:13 a.m. | Last Modified: 4 Jun 2020, 2:13 a.m.

Panel Version: 0.3002

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome

Publications

• 31949313
• 32083401

Green List (high evidence)

Hyperinsulinism is a presenting feature of Kabuki syndrome in the neonatal period.
Sources: Expert Review

Created: 14 Feb 2020, 3:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 29907798