Table 2.
The relative frequency of symptoms associated with biallelic variants in C1QBP and the related HPO terms.
| HPO terms | Frequency | C1QBP mutations |
|---|---|---|
| Autosomal recessive inheritance | 12/12 | (p. Cys186Ser; p. Phe204Leu); (p. Gly247Trp; p. Leu275Pro); (p. Leu275Phe); (p. Tyr188del); (p. Phe204Leu); (p.Val248Ala); (p.Phe204Leu; p.Thr40Asnfs*45) |
| Cardiomyopathy | 10/12 | (p. Cys186Ser; p. Phe204Leu); (p. Gly247Trp; p. Leu275Pro); (p. Leu275Phe); (p. Tyr188del); (p.Val248Ala); (p.Phe204Leu; p.Thr40Asnfs*45) |
| Left ventricular hypertrophy | 7/12 | (p. Cys186Ser; p. Phe204Leu); (p. Leu275Phe); (p. Tyr188del) (p.Phe204Leu; p.Thr40Asnfs*45) |
| Ptosis | 6/12 | (p. Leu275Phe); (p. Tyr188del); (p. Phe204Leu) |
| Exercise tolerance | 5/12 | (p. Leu275Phe); (p. Tyr188del) |
| Progressive external ophthalmoplegia | 5/12 | (p. Leu275Phe); (p. Tyr188del); (p. Phe204Leu) |
| Cardiomegaly | 4/12 | (p. Cys186Ser; p. Phe204Leu); (p. Gly247Trp; p. Leu275Pro); (p.Val248Ala) |
| Hepatomegaly | 3/12 | (p. Gly247Trp; p. Leu275Pro); (p.Val248Ala) |
| Astigmatism | 2/12 | (p. Leu275Phe) |
| Generalized edema | 2/12 | (p.Val248Ala) |
| Ventricular arrhythmias | 2/12 | (p.Phe204Leu; p.Thr40Asnfs*45) |
| Amblyopia | 1/12 | (p. Leu275Phe) |
| Cardiorespiratory arrest | 1/12 | (p. Cys186Ser; p. Phe204Leu); |
| Cerebral edema | 1/12 | (p. Cys186Ser; p. Phe204Leu); |
| Dysphagia | 1/12 | (p. Phe204Leu) |
| Fatigue | 1/12 | (p. Leu275Phe) |
| Hypothyroidism | 1/12 | (p. Cys186Ser; p. Phe204Leu) |
| Nephrotic syndrome | 1/12 | (p. Cys186Ser; p. Phe204Leu); |
| Sensory neuropathy | 1/12 | (p. Leu275Phe) |
| Sensorineural hearing impairment | 1/12 | (p. Tyr188del) |
| Seizures | 1/12 | (p. Cys186Ser; p. Phe204Leu); |
| Vomiting | 1/12 | (p. Leu275Phe) |
HPO, Human Phenotype Ontology.
Variants in () refer to mutation. Two sites indicating compound heterozygous mutations, one site indicating homozygous mutations.