Details of mutations identified in patients with a positive molecular diagnosis
| Trio* | Sex | Affected gene | Inheritance | Mutation type | NCBI RefSeq | cDNA and protein changes identified | Molecular diagnosis (OMIM no.) |
|---|---|---|---|---|---|---|---|
| 2 | M | ACE | Compound heterozygous | Frameshift deletion | NM_000789.3 | c.819_820delAG; p.(Arg274Glyfs*117) | Renal tubular dysgenesis (106180) |
| Frameshift deletion | NM_000789.3 | c.3521delG; p.(Gly1174Alafs*12) | |||||
| 6 | M | SCN1A | De novo | Missense | NM_001202435.1 | c.620T>G; p.(Val207Gly) | SCN1A-related encephalopathy syndrome (607208) |
| 8 | M | MTM1 | X-linked | Nonsense | NM_000252.2 | c.584C>A; p.(Tyr198*) | Myotubular myopathy, X-linked (310400) |
| 9 | F | FTO | Autosomal recessive | Missense | NM_001080432.2 | c.956C>T; p.(Ser319Phe) | FTO deficiency syndrome (612938) |
| 11 | M | WDR19 | Compound heterozygous | Nonsense | NM_025132.3 | c.1600G>T; p.(Glu534*) | Cranioectodermal dysplasia (614376) |
| Missense | NM_025132.3 | c.2129T>C; p.(Leu710Ser) | |||||
| 15 | M | CHRND | Autosomal recessive | Splice site | NM_000751.2 | c.932+5G>A; p.? | Congenital myasthenic syndrome (601462) |
| 18 | M | DYRK1A | De novo | Splice site | NM_001396.3 | c.951+4_951+7delAGTA; p.? | Autosomal dominant intellectual disability syndrome type 7 (614104) |
| 19 | F | WT1 | De novo | Missense | NM_024426.4 | c.1460A>C; p.(His469Pro) | Denys–Drash syndrome (194080) |
Note: cDNA = complementary DNA, NCBI = National Center for Biotechnology Information (US), OMIM = Online Mendelian Inheritance in Man.
↵* Trio = newborn + parents.