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Table 1 Key genes associated with neonatal diabetes mellitus

From: Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

Gene

Location

Inheritance

Clinical features

PLAGL1, HYMAI

6q24

Variable (imprinting)

Transient NDM

 

± Macroglossia, ± Umbilical Hernia, ± Other features if part of generalized hypomethylation syndrome

KCNJ11

11p15.1

De novo, Dominant or Recessive

Permanent or Transient NDM, ± Developmental delay, epilepsy, neonatal diabetes (DEND) syndrome

ABCC8

11p15.1

De novo, Dominant or Recessive

Transient or Permanent NDM, ± DEND syndrome

EIF2AK3

6q22.1

Recessive

Wolcott-Rallison Syndrome:

Permanent NDM

Short stature

Bone dysplasia

Hepatic dysfunction

INS

11p15.5

Recessive

Isolated permanent or transient NDM

GCK

7p15-p13

Recessive

Isolated permanent NDM

  1. The most common genes associated with neonatal diabetes mellitus are described with key clinical features and mode of inheritance. Adapted from [2]. Genes associated with abnormal pancreas development are described in Table 2