A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report

Table 1 A review of initiation codon variants of CDC73 and related clinical presentation

References	Clinical presentation (number)				Germline mutation	Coding change
References	HPT	JT	KL	UD	Germline mutation	Coding change
[1]	4/4	2/4	4/4	0	c.3G > A	p.Met1Ile
Clinvar^a	No record	Presence	Presence	No record	c.2 T > C	p.Met1Thr
[26]	0	0	3/3	2/3	c.3G > T	p.Met1Ile
Our report	0	2/2	1/2	1/2	c.1A > G	p.Met1Val

HPT Hyperparathyroidism, JT Jaw tumor, KL Kidney lesion, UD Uterine disease
Presence, presented with Nephroblastoma and Ossifying fibroma of the jaw, but the number is not referred to. No record; HPT or UD-related diseases is not recorded in databases
^aNational Center for Biotechnology Information. ClinVar; [VCV000521635.2], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000521635.2

ISSN: 1746-1596