Table 2 Mutation type and phenotypic presentation in probands carrying two heterozygous variants within the same gene
Family ID | Proband ID | Gene | Identified variants | Primary phenotype of patient | Secondary phenotypes of patients | Phenotypic characteristic of patients with syndromes related to investigated gene | Mutations co-segregation with phenotype |
|---|---|---|---|---|---|---|---|
OB1 | OB1.5 | ALMS1 | p.K1992E p.L2520S | Hyperphagia | NA | ALMS: retinal degeneration, hearing loss, diabetes mellitus, dilated cardiomyopathy, urological dysfunction, pulmonary, hepatic, renal failure | No |
OB2 | OB2–5 | CEP290 | p.S872 L p.K140R | Hyperphagia, Hypertension | NA | Joubert syndrome: brain abnormalities, molar tooth sign, hypotonia, ataxia, hyperpneaorapnea, ocular motor apraxia | No |
OB8 | OB8–3 | p.T1512I p.G1890X | Dyslipidemia | NA | No | ||
OB15 | OB15–5 | BBS9 | p.R75X p.R481X | Hypogonadism, Mental retardation, Obesity, Vision impairment. | Speech impairment, Hypertension. | Bardet-bieldel syndrome: obesity, polydactyly, renal anomalies, retinopathy, mental retardation | Yes |