Table 4 Patients with dual molecular diagnosis by clinical WES
From: Clinical exome sequencing: results from 2819 samples reflecting 1000 families
LOVD patient ID | Inheritance | Gene | OMIM description | OMIM Id | Transcript | Mutation | Type of Mutation | Class | HPO terms |
|---|---|---|---|---|---|---|---|---|---|
00080793 | AR | INSR | Leprechaunism | OMIM:246200 | NM_000208.2 | c.433C>T | Missense | P | Lymphedema, Intrauterine growth retardation, hypertrophic cardiomyopathy, cardiomegaly, patent ductus arteriosus, mitral regurgitation, left ventricular hypertrophy, immunodeficiency, decreased skull ossification |
AR | IFNGR2 | Immunodeficiency 28, mycobacteriosis | OMIM:614889 | NM_005534.3 | c.705C>A | Nonsense | P | ||
00080794 | AD | FOXP1 | Mental retardation with language impairment and with or without autistic features | OMIM: 613670 | NM_032682.5 | c.1573C>T | Nonsense | P | Macrocephaly, abnormality of the face, low-set ears, delayed speech and language development, intellectual disability, motor delay, agenesis of corpus callosum, megalencephaly, postaxial polydactyly |
AD | PTCH1 | Basal cell nevus syndrome | OMIM: 109400 | NM_000264.3 | c.2834delinsCGGGTCCACAACATC | Frameshift | LP | ||
00080795 | AR | DLD | Dihydrolipoamide dehydrogenase deficiency | OMIM:246900 | NM_000108.3 | c.685G>T | Missense | P | Abnormality of coagulation, hypoglycemia, vomiting, hyperuricemia, hepatomegaly, elevated hepatic transaminases, lactic acidosis, decreased muscle mass, fatigable weakness, abnormal eating behavior |
Mitochondrial | MT-CO1 | Cytochrome c oxidase subunit I | OMIM:516030 | NC_012920.1 | m.7443A>C | Stoploss | LP |
