TABLE 1

Clinical phenotype of patients with dominant, diazoxide-unresponsive SUR1 mutations

Birth weightAge of presentation (days)Diazoxide-responsiveHistologyMutation (p.)Parent of origin
Family 1 II-1LGA1NoDiffuseQ474RDe novo
Family 2 II-1LGA1NoDiffuseA478DMaternal
Family 2 II-2AGA1NoDiffuseA478DMaternal
Family 3 II-1AGA1NoDiffuseV715AMaternal
Family 3 II-2LGA1NoNo surgeryV715AMaternal
Family 4 II-1LGA1NoNo surgeryV715GNot maternal
Family 5 II-1LGA1NoDiffuseV715GDe novo
Family 6 II-1LGA42NoDiffuseV715GDe novo
Family 7 II-1LGA5NoDiffuseG716DNot maternal
Family 8 II-1AGA3NoDiffuseT888PDe novo
Family 9 II-1AGA2NoDiffuseG1384EDe novo
Family 10 II-1LGA1NoDiffuseS1387FDe novo
Family 11 II-1LGA1NoDiffuseS1387YDe novo
Family 12 II-1LGA1NoDiffuseS1389YDe novo
Family 13 II-1SGA180NoDiffuseA1458TPaternal
Family 14 II-1LGA88NoDiffuseQ1459HDe novo
Family 15 II-1AGA167NoDiffuseE1517KMaternal
Dominant diazoxide-unresponsive (n = 17)65% LGAmedian 1 day range (1–180 days)100% noDiffuse5 of 17 maternal
1 of 17 paternal
9 of 17 de novo
2 of 17 not maternal
Dominant diazoxide-responsive (n = 13)77% LGAmedian 30 days range (1–1,215 days)100% yesDiffuse5 of 13 maternal
4 of 13 paternal
4 of 13 de novo
Recessive (n = 48)87% LGAmedian 1 day range (1–9 days)100% noDiffuse48 of 48 biallelic
  • LGA, AGA, SGA = large, appropriate, small for gestational age.