Skip to main content

Table 2 Mutation type and phenotypic presentation in probands carrying two heterozygous variants within the same gene

From: Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report

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