Table 3 Patients with dual molecular diagnosis
IDa | Consanguinty | Gene | Associated disease (OMIM ID) | Inheritance | Category |
|---|---|---|---|---|---|
Patient 1 | No | SRCAP | Floating-Harbor syndrome (136140) | AD | Overlapping |
PTPN11 | Noonan syndrome 1 (163950) | AD | |||
Patient 2 | Yes | PNPLA8 | Mitochondrial myopathy with lactic acidosis (251950) | AR | Overlapping |
SGCD | Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287) | AR | |||
Patient 3 | Yes | SLC22A5 | Carnitine deficiency, systemic primary (212140) | AR | Overlapping |
DNMT3A | Tatton–Brown–Rahman syndrome (615879) | AD | |||
Patient 4 | Yes | MYO7A | Deafness, autosomal recessive 2 (600060)/ Usher syndrome, type 1B (276900) | AR | Distinct |
BBS1 | Bardet-Biedl syndrome 1 (209900) | AR | |||
Patient 5 | Yes | SACS | Spastic ataxia, Charlevoix-Saguenay type (270550) | AR | Distinct |
HPS6 | Hermansky–Pudlak syndrome 6 (614075) | AR | |||
Patient 6 | Yes | NALCN | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (615419) | AR | Distinct |
GALT | Galactosemia (230400) | AR | |||
Patient 7 | Yes | ITGA7 | Muscular dystrophy, congenital, due to ITGA7 deficiency (613204) | AR | Overlapping |
ATAD3A | Harel-Yoon syndrome (617183) | AR | |||
Patient 8 | Yes | FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (613153) | AR | Overlapping |
GYG1 | Polyglucosan body myopathy 2 (616199) | AR | |||
Patient 9 | Yes | HECW2 | Neurodevelopmental disorder with hypotonia, seizures, and absent language (617268) | AD | Overlapping |
ERCC8 | Cockayne syndrome, type A (216400) | AR | |||
Patient 10 | No | CDKL5 | Developmental and epileptic encephalopathy 2 (300672) | XLD | Overlapping |
POLG | Mitochondrial DNA depletion syndrome 4A (Alpers type) (203700) | AR | |||
Patient 11 | Yes | PTPN11 | Noonan syndrome 1 (163950) | AD | Distinct |
CAPN5 | Vitreoretinopathy, neovascular inflammatory (193235) | AD |
