. 2018 Jun 18;2(7):806–816. doi: 10.1210/js.2018-00120

Table 1.

Summary of PPGL Index Cases Associated With SDHA Variants Reported in Literature

Characteristic	Value
Index cases, No.	95
Age, mean (range), y	40.0 (15–81)
Female/male, No.	48/47
Primary tumor site, No. (%)^a
Head and neck PGL	47 (49)
Other PGL^b	30 (31)
Pheochromocytoma	19 (20)
Family history, No.
Positive for PPGL/GIST^c	2
Positive for other relevant tumor types^c^,^d	7
SDHA variant type, No. (%)
LOF^e	59 (62)
Missense	36 (38)
Unique SDHA variants, No.	39

Abbreviation: PGL, paraganglioma.

^{^a}

One patient had both a mediastinal PGL and carotid body tumor, resulting in n = 96 for primary tumor site.

^{^b}

Refers to all extra-adrenal paragangliomas excluding those affecting the head and neck.

^{^c}

In each index case with an apparent positive family history, a single affected family member was reported.

^{^d}

Other relevant tumors include pituitary adenoma and renal cell carcinoma. However, in some instances, the SDHA carrier status of the family member was unknown and in at least one case was known to be negative.

^{^e}

LOF variants include single-nucleotide variants resulting in nonsense amino acid change or canonical splice site disruption, as well as insertions and/or deletions (indels) resulting in a frameshift and premature truncation of the encoded protein.