. Author manuscript; available in PMC: 2023 Dec 1.

Published in final edited form as: Am J Med Genet A. 2022 Sep 14;188(12):3448–3462. doi: 10.1002/ajmg.a.62962

TABLE 1.

Cohort demographics

Patient	Mutated gene	Sex	Age at last observation (years)	Age at death (years)	Age onset of hip pain-related walking difficulty (years)	Age onset of imaging findings of AVN/hip degeneration (years)	Age bilateral diagnosis of AVN/hip degeneration (years)
Patients with hip degeneration
TTD412BE-D^NP	ERCC2/XPD	M	9	10^a	5	5	8
TTD405BE-D^P	ERCC2/XPD	F	15		6	6	6
TTD401BE-D^NP	ERCC2/XPD	F	18		6	9	9
TTD354BE-D^P	ERCC2/XPD	F	9	9^b	7	7	9
TTD519BE-D^P	ERCC2/XPD	M	15		7	9	9
TTD421BE-D^P	ERCC2/XPD	F	14		9	11	Right only
TTD462BE-D^P	ERCC2/XPD	F	11		10	10.5	Left only
TTD355BE-D^P	ERCC2/XPD	M	12	12^c	10	ND	Left only
TTD351BE-D^P	ERCC2/XPD	M	15	15^d	11	12	14
TTD328BE-D^MP	ERCC2/XPD	M	29		12	13	17
			Median age 15	Median age 11	Median age 8	Median age 9	Median age 9
			Range 9–29	Range 9–15	Range 5–12	Range 5–13	Range 6–17
Patients without hip degeneration
TTD471BE-D^NP	ERCC2/XPD	M	2	2^e
TTD496BE-D^MP	ERCC2/XPD	M	2
TTD445BE-D^NP	ERCC2/XPD	M	3	3^f
TTD472BE-D^P	ERCC2/XPD	M	3	3^g
TTD568BE-D^NP	ERCC2/XPD	F	4
TTD383BE-D^MP	ERCC2/XPD	F	7	7^h
TTD475BE-D^NP	ERCC2/XPD	M	8
TTD397BE-D^NP	ERCC2/XPD	M	13
TTD409BE-D^NP	ERCC2/XPD	M	13
TTD506BE-D^MP	ERCC2/XPD	M	15
TTD353BE-D^NP	ERCC2/XPD	F	17
TTD378BE-D^P	ERCC2/XPD	F	18
TTD352BE-D^NP	ERCC2/XPD	F	19
			Median age 8	Median age 3
			Range 2–19	Range 2–19
TTD402BE-N^NP	MPLKIP/TTDN1	M	23
TTD480BE-N^NP	MPLKIP/TTDN1	F	12
TTD488BE-N^NP	MPLKIP/TTDN1	F	9
TTD343BE-N^P	MPLKIP/TTDN1	M	30
TTD487BE-N^NP	MPLKIP/TTDN1	M	7
			Median age 12
			Range 7–30
TTD403BE-A^P	GTF2H5/TTDA	F	29
TTD332BE-A^MP	GTF2H5/TTDA	M	36	36ⁱ
TTD331BE-A^P	GTF2H5/TTDA	M	27
			Median age 29
			Range 27–36
TTD379BE-G^NP	GTF2E2	M	10
			Median age N/A
			Range N/A
TTD491BE-U^MP	Unknown	F	9
TTD125BE-U^NP	Unknown	F	19
TTD347BE-U^p	Unknown	F	9	9^j
TTD484BE-U^p	Unknown	F	11
TTD124BE-U^NP	Unknown	M	24
			Median age 11
			Range 9–24

Abbreviations: AVN, avascular necrosis; MP, mild photosensitive; NP, nonphotosensitive; P, photosensitive.

Died of sepsis and respiratory arrest after prolonged hospitalization following hip tendon release surgery.

Died 2 years after onset of hip pain due to methicillin-resistant S. aureus pneumonia.

Died after being found unresponsive after dose of methadone.

Died of respiratory failure and sepsis during recovery from hip surgery.

After laparoscopic G-tube placement and fundoplication, he rapidly developed respiratory insufficiency and was unable to be recusicated.

Died at age 3 years of multiple organ failure after long (4–5 months) illness and NICU treatment following dental surgery.

Died at age 3 years after G-tube placement. While inpatient, he became unresponsive, developed respiratory failure, and was unable to be recuscitated.

Died 2006.

ⁱ

Died while hospitalized with pneumonia possibly from cardiogenic shock.

While hospitalized to rule out sepsis, she developed respiratory difficulty. Died of cardiac arrest while attempting intubation.