Table 1 Details of individuals with biallelic mutations in RFX6
From: Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
Case no. | Relationship | Proband no. in Smith (ref. 5) | Sex | Ethnic origin | Birth weight | Gestational age at birth | Age of onset of diabetes | GI atresia/malrotation | Hepato- biliary | Pancreas | Other | Outcome | RFX6 mutation- nucleotide | RFX6 mutation- protein | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | n/a | 1 | M | Pakistani | 1540 g | 36 weeks | Day 1 | DA, JA | GBA | AP | Malabsorption unresponsive to pancreatic supplements/bile acids; cholestasis | Deceased at 158 days | c.380+2T>C homozygous | p.? | Mitchell et al.6 |
2 | Sibling of case 1 | n/a | F | Pakistani | 1310 g | 34 weeks | Day 2 | DA, JA | GBA | AP | Duodenal biopsy: partial villous atrophy. Intrahepatic cholestasis. | Deceased at 194 days | c.380+2T>C homozygous | p.? | Mitchell et al.6 |
3 | n/a | 3 | F | Not stated | 2295 g | 39 weeks | Day 2 | Duodenal web and malrotation | GBA | Small Pancreas | Intrahepatic cholestasis; bilateral inguinal hernias | Alive at 1 year; HbA1c 7.5% off insulin treatment | c.672+2T>G/c.224-12A>G compound heterozygote | p.?/p.? | Mitchell et al.6 |
4 | n/a | 2 | F | Pakistani | 1700 g | 35 weeks | Day 8 | DA, malrotation | GBA | Undetectable fecal elastase | Intrahepatic cholestasis; anteriorly placed anus | Alive at 1 year 9 months | c.649T>C homozygous | p.Ser217Pro | Chappell et al.7 |
5 | n/a | 5 | M | Not stated | 1340 g | 38 weeks | Soon after birth | DA, JA (apple peel-type), intestinal malrotation | GBA | Pancreatic hypoplasia | Intrahepatic cholestasis; malabsorption unresponsive to pancreatic supplements/bile acids; neonatal haemochromatosis | Deceased at 2 months | c.542G>A homozygous | pArg181Gly | Martinovici et al.8 |
6 | n/a | 4 | M | French, non-consanguineous | <10th centile | 35 weeks | Day 2 | DA | No abnormality reported | No abnormality reported | Ascites, sepsis, gastro-intestinal haemorrhage | Deceased at 2.5 months | c.776_780+8del13 homozygous | p.? | Smith et al.5 |
7 | n/a | n/a | M | Arab-Israeli | 1490 g | 38 weeks | Day 1 | DA, JA, intestinal malrotation | GBA | AP | Intrahepatic cholestasis; red cell aplasia confirmed on bone marrow biopsy; malabsoprtion unresponsive to pancreatic supplements/bile acids | Alive at 1 year 9 months, on twice daily insulin, HbA1c 7.1% | c.781-2_787delAGGTTGATAinsG homozygous | p.? | Spiegel et al.9 |
8 | n/a | n/a | M | Vietnamese | 1375 g | 34 weeks | Day 1 | DA, intestinal malrotation | GBA | AP | Intrahepatic cholestasis; malabsoprtion unresponsive to pancreatic supplements/bile acids | Deceased at 5 months | c.779A>C homozygous | p.Lys260Thr | Concepcion et al.10 |
9 | n/a | n/a | F | Turkish | 1650 g | 32 weeks | 3 years | DA, jejunal web, Meckel’s diverticulum | GBA | No abnormality reported | No abnormality reported | Alive at 9 years | c.2176C>T homozygous | p.Arg726X | Present report |
10 | Double-first cousin of case 9 | n/a | M | Turkish | 1700 g | 34 weeks | 6 years | DA, mid-gut malrotation | No abnormality reported | No abnormality reported | No abnormality reported | Alive at 9 years | c.2176C>T homozygous | p.Arg726X | Present report |
