Phenotypic manifestations in Italian PGL-1 families segregating the Q109X SDHD mutation
| Family | Subject | Age at onset, years | Phenotype | |||
|---|---|---|---|---|---|---|
| NK, not known. | ||||||
| A | III-1 | 20 | Abdominal paragangliomas + bilateral PHEOs | |||
| III-2 | 31 | Right jugular paraganglioma + left PHEO | ||||
| B | III-9 | 43 | Bilateral carotid body paragangliomas + bladder paraganglioma | |||
| C | I-2 | NK | Died at 51 years, hemiplegic, hypertensive crises (not personally evaluated) | |||
| II-1 | NK | Not clinically evaluated | ||||
| II-2 | NK | Referred neck masses (not personally evaluated) | ||||
| II-3 | NK | Referred neck masses (not personally evaluated) | ||||
| II-4 | NK | Referred neck masses (not personally evaluated) | ||||
| II-5 | 69 | Bilateral carotid body paragangliomas | ||||
| II-7 | NK | Died at 54 years during a hypertensive crises (not personally evaluated) | ||||
| II-9 | 66 | Bilateral carotid body paragangliomas | ||||
| III-2 | 48 | Bilateral carotid body paragangliomas + mediastinal paraganglioma | ||||
| III-13 | 14 | Bilateral carotid body paragangliomas + jugular paraganglioma | ||||
| III-14 | 52 | Right glomus tumour + cerebral cavernous angiomas | ||||
| III-16 | 31 | Right PHEO | ||||
| III-17 | 41 | Left glomus tumours + abdominal paraganglioma | ||||
| III-19 | NK | Not clinically evaluated | ||||
| IV-3 | 25 | Bilateral carotid body paragangliomas | ||||
| IV-19 | 33 | Left glomus tumour | ||||
| D | III-4 | 57 | Left jugular-timpanic + bilateral glomus tumours | |||
| IV-2 | 23 | Bilateral carotid body paragangliomas | ||||
| E | II-1 | 65 | Bilateral carotid body paragangliomas + paratracheal paraganglioma | |||
| F | IV-7 | 33 | Bilateral carotid body paragangliomas + bilateral vagal paragangliomas | |||
| IV-8 | 25 | Laryngeal paraganglioma + right glomus tumour + right vagal-giugular paraganglioma + left vagal paraganglioma | ||||
| IV-9 | 21 | Bilateral carotid body paragangliomas | ||||