. 2023 May 31;14:1136339. doi: 10.3389/fgene.2023.1136339

TABLE 1.

Cohort demographics and clinical features ‘+’ = sign is present, ‘-‘ = sign is absent, U = data unknown.

Individual	P1	P2	P3	P4	P5	P6	P7	P8	P9	P10	P11	P12	P13	P14	P15	P16	P17	P18	P19	P20	P21	Total
Gender	F	M	F	F	F	M	F	F	F	M	F	F	F	F	F	F	F	M	F	M	F	M = 5 (24%)
Gender	F	M	F	F	F	M	F	F	F	M	F	F	F	F	F	F	F	M	F	M	F	F = 16 (76%)
Age at molecular diagnosis	33	69	73	69	60	21	40	45	59	34	41	30	39	45	24	75	28	35	33	29	26
Gene	C1R	C1R	C1R	C1R	C1R	C1R	C1R	C1R	C1R	C1R	C1R	na	C1R	C1R	C1R	C1R	C1R	C1R	C1R	C1R	C1R	C1R = 20 (95%
Variant	c. (1273 + 1_1274-1)_(1348 + 1_1349-1)del	c.707T>C	c.689T>C	c.689T>C	c. (1273 + 1_1274-1)_(1348 + 1_1349-1)del	c.1073G>A	c.689T>C	c.689T>C	c.702_711delinsT	c.702_711delinsT	c.926G>A	na	c.869A>G	c.149_150 TC>AT	c.149_150 TC>AT	c.1339T>C	c.628T>G	c.1113C>G	c.1113C>G	c.1073G>T	c.1073G>T
Protein	exon 10 deletion	p. (Phe236Ser)	p. (Leu230Pro)	p. (Leu230Pro)	exon 10 deletion	p. (Cys358Tyr)	p. (Leu230Pro)	p. (Leu230Pro)	p. (Lys235_Leu237del)	p. (Lys235_Leu237del)	p. (Cys309Tyr)	na	p. (Asp290Gly)	p. (Val50Asp)	p. (Val50Asp)	p. (Cys447Arg)	p. (Tyr210Asp)	p. (Cys371Trp)	p. (Cys371Trp)	p. (Cys358Phe)	p. (Cys358Phe)
Dental
Periodonititis	+	+	+	+	+	+	+	+	U	+	U	U	+	+	+	+	+	+	+	+	+	18 (86%)
Lack of attached gingiva	+	+	+	+	+	+	+	+	U	+	U	U	+	+	+	+	+	+	+	+	+	18 (86%)
Dermatological features
Thin skin	+	+	+	+	+	+	-	-	U	-	+	U	+	-	-	+	-	+	+	+	+	13 (62%)
Hyperextensibiliy	-	-	-	-	-	-	-	-	+	-	-	U	-	-	-	U	-	+	-	+	+	4 (19%)
Fragility	-	+	+	+	+	+	+	+	+	+	U	U	+	-	-	+	-	+	+	+	+	15 (71%)
Easy bruising	+	+	+	+	+	+	+	+	+	+	+	U	+	+	+	+	-	+	+	+	+	19 (90%)
Long term bruising	-	+	+	+	+	+	U	+	U	+	U	U	-	-	-	U	-	+	+	+	+	11 (52%)
Pretibial discolouration	-	+	+	+	+	+	+	+	+	+	+	+	+	-	-	+	-	+	+	+	+	17 (81%)
Symmetrical discolouration	-	+	+	+	+	+	+	+ plus pigment on right calf	+	+	+	+	+ plus pigment on right calf	-	-	+	-	+	+	+	+	17 (81%)
Abnormal scarring	+ atrophic	-	+ widened	+ atrophic	-	+ atrophic	-	-	U	+ widened	-	U	+ atrophic	-	-	+ widened	-	-	+ atrophic	-	+ atrophic	9 (43%)
Thread veins	+	+	+	+	-	-	-	-	+	-	U	U	-	-	-	-	-	-	+	-	-	6 (29%)
Musculoskeletal
Beighton score	2/9	0/8	0/9	0/8	1/9	7/9	4/9	0/8	5/9	0/8	U	U	2/9	1/9	1/9	0/9	6/9	0/9	3/9	8/9	9/9	5 (24%)
Joint pain, age (yrs)	+	-	+	-	+	-	+	+	+	+	U	U	+	-	-	-	+	+	-	+	-	11 (52%)
Joint pain, age (yrs)	10	-	+	-	+	-	40	10	20	18	U	U	+	-	-	-	18	33	-	29	-	11 (52%)
Dislocation/subluxations	-	+	-	-	-	-	+	-	-	U	U	U	-	-	-	+	-	+	-	-	-	4 (19%)
Spinal abnormalities	+	-	-	+	U	+	-	-	U	-	U	U	-	-	-	-	-	-	-	-	-	3 (14%)
Foot abnormality	-	-	+	+	-	U	+	-	+	+	U	U	-	-	-	+	+	-	+	-	-	8 (38%)
Ear, nose and throat
Voice changes (age of onset in years)	-	+55	-	-	-	+19	-	-	-	-	U	U	+20	+ U	-	+ U	-	+19	-	+14	+ U	8 (38%)
Management		tracheal resection											surgical correction	antibiotics				speech and language therapy			Surgical correction
Complications		mid anastomotic stricture treated via laser bronchoscopy																			Surgical resection of scar tissue with local steroid injections
Central nervous system
Leukodystrophy (age at scan in years)	U	U	U	+64	U	U	+41	+46	U	U	U	+30	U	U	U	U	- 30	+38	+36	+33	+30	8/9 (89%)
Psychological symptoms	+	-	+	-	+	+	+	+	-	+	-	-	-	-	-	-	-	+	+	+	-	10 (48%)
Tremor	-	+	-	-	-	-	+	-	-	U	-	-	-	-	-	-	-	+	-	-	-	3 (14%)
Loss of concentration	-	-	-	-	U	-	+	-	+	U	U	U	-	-	-	-	-	+	-	+	+	5 (24%)
Diplopia	-	-	-	+	-	-	-	-	-	-	U	U	-	-	-	-	-	-	-	-	-	1 (5%)
Loss of speech	-	-	-	-	-	-	-	-	-	-	U	U	-	-	-	-	-	-	-	-	-	0
Spasticity	-	-	-	-	-	-	-	-	-	-	U	U	-	-	-	-	-	-	-	-	-	0
Memory loss	-	-	-	-	-	U	-	+	+	U	U	U	+	-	-	-	-	-	-	+	-	4 (19%)
Headache	+	-	-	+	-	U	+	+	U	U	U	U	-	-	-	+	-	+	+	+	+	9 (43%)
Migraine	-	-	-	-	-	-	+	+	U	U	U	U	-	-	-	+	-	+	-	+	+	6 (29%)
Incontinence	+	-	-	-	-	-	+	-	-	U	U	U	U	-	-	U	-	-	-	-	-	2 (10%)
Back pain	+	-	-	-	+	-	+	+	+	+	U	U	U	-	-	+	-	+	-	+	-	9 (43%)