Table 1. Open in new tab Cohort...

Genetic ID	Genetic Diagnosis	Number of Patients	Male	Female	Mean Age at Height Measurement	Age Range	Mean Height SD	95% CI of the Mean for Height SD	Number of Patients With BMI	Mean BMI SD	95% CI of the Mean for BMI SD
All cohort	575	220	355	46	18–85	−0.49	−0.58 to −0.39	472	0.52	0.37 to 0.67
Primary mtDNA mutations
	m.14709T>C	11	1	10	48	26–64	0.30	−0.57 to 1.17	7	−0.24	−3.00 to 2.53
	m.3243A>G	234	95	139	42	18–79	−0.70	−0.85 to −0.55	212	0.12	−0.10 to 0.34
	m.8344A>G	40	13	27	45	20–69	−0.41	−0.72 to −0.11	28	0.66	−0.01 to 1.34
	Single large-scale mtDNA deletion	90	34	56	47	18–85	−0.27	−0.52 to −0.03	78	0.68	0.33 to 1.03
	Other^a	54	20	34	42	20–77	−0.33	−0.59 to −0.06	40	0.72	0.23 to 1.20
Nuclear DNA mutations
	OPA1	17	5	12	46	18–72	−0.28	−0.91 to 0.35	13	2.11	1.56 to 2.67
	POLG	27	11	16	49	19–80	−0.09	−0.50 to 0.31	19	1.00	−0.03 to 1.96
	RRM2B	17	5	12	59	31–76	−0.30	−0.88 to 0.29	14	0.97	0.34 to 1.60
	TWINK	40	15	25	58	18–82	−0.42	−0.73 to −0.11	32	1.32	0.79 to 1.85
	Other multiple deletion	27	12	15	63	45–77	−0.69	−1.22 to −0.16	15	1.27	0.64 to 1.91
	Other^b	18	9	9	39	18–81	−0.66	−1.24 to −0.09	14	0.00	−1.60 to 1.61

Genetic ID

Genetic Diagnosis

Number of Patients

Male

Female

Mean Age at Height Measurement

Age Range

Mean Height SD

95% CI of the Mean for Height SD

Number of Patients With BMI

Mean BMI SD

95% CI of the Mean for BMI SD

All cohort

575

220

355

18–85

−0.49

−0.58 to −0.39

472

0.52

0.37 to 0.67

Primary mtDNA mutations

m.14709T>C

26–64

0.30

−0.57 to 1.17

−0.24

−3.00 to 2.53

m.3243A>G

234

139

18–79

−0.70

−0.85 to −0.55

212

0.12

−0.10 to 0.34

m.8344A>G

20–69

−0.41

−0.72 to −0.11

0.66

−0.01 to 1.34

Single large-scale mtDNA deletion

18–85

−0.27

−0.52 to −0.03

0.68

0.33 to 1.03

Other^a

20–77

−0.33

−0.59 to −0.06

0.72

0.23 to 1.20

Nuclear DNA mutations

OPA1

18–72

−0.28

−0.91 to 0.35

2.11

1.56 to 2.67

POLG

19–80

−0.09

−0.50 to 0.31

1.00

−0.03 to 1.96

RRM2B

31–76

−0.30

−0.88 to 0.29

0.97

0.34 to 1.60

TWINK

18–82

−0.42

−0.73 to −0.11

1.32

0.79 to 1.85

Other multiple deletion

45–77

−0.69

−1.22 to −0.16

1.27

0.64 to 1.91

Other^b

18–81

−0.66

−1.24 to −0.09

0.00

−1.60 to 1.61

Genetic ID	Genetic Diagnosis	Number of Patients	Male	Female	Mean Age at Height Measurement	Age Range	Mean Height SD	95% CI of the Mean for Height SD	Number of Patients With BMI	Mean BMI SD	95% CI of the Mean for BMI SD
All cohort	575	220	355	46	18–85	−0.49	−0.58 to −0.39	472	0.52	0.37 to 0.67
Primary mtDNA mutations
	m.14709T>C	11	1	10	48	26–64	0.30	−0.57 to 1.17	7	−0.24	−3.00 to 2.53
	m.3243A>G	234	95	139	42	18–79	−0.70	−0.85 to −0.55	212	0.12	−0.10 to 0.34
	m.8344A>G	40	13	27	45	20–69	−0.41	−0.72 to −0.11	28	0.66	−0.01 to 1.34
	Single large-scale mtDNA deletion	90	34	56	47	18–85	−0.27	−0.52 to −0.03	78	0.68	0.33 to 1.03
	Other^a	54	20	34	42	20–77	−0.33	−0.59 to −0.06	40	0.72	0.23 to 1.20
Nuclear DNA mutations
	OPA1	17	5	12	46	18–72	−0.28	−0.91 to 0.35	13	2.11	1.56 to 2.67
	POLG	27	11	16	49	19–80	−0.09	−0.50 to 0.31	19	1.00	−0.03 to 1.96
	RRM2B	17	5	12	59	31–76	−0.30	−0.88 to 0.29	14	0.97	0.34 to 1.60
	TWINK	40	15	25	58	18–82	−0.42	−0.73 to −0.11	32	1.32	0.79 to 1.85
	Other multiple deletion	27	12	15	63	45–77	−0.69	−1.22 to −0.16	15	1.27	0.64 to 1.91
	Other^b	18	9	9	39	18–81	−0.66	−1.24 to −0.09	14	0.00	−1.60 to 1.61

Table 1.

Open in new tab

Cohort Demographics

Genetic ID	Genetic Diagnosis	Number of Patients	Male	Female	Mean Age at Height Measurement	Age Range	Mean Height SD	95% CI of the Mean for Height SD	Number of Patients With BMI	Mean BMI SD	95% CI of the Mean for BMI SD
All cohort		575	220	355	46	18–85	−0.49	−0.58 to −0.39	472	0.52	0.37 to 0.67
Primary mtDNA mutations
	m.14709T>C	11	1	10	48	26–64	0.30	−0.57 to 1.17	7	−0.24	−3.00 to 2.53
	m.3243A>G	234	95	139	42	18–79	−0.70	−0.85 to −0.55	212	0.12	−0.10 to 0.34
	m.8344A>G	40	13	27	45	20–69	−0.41	−0.72 to −0.11	28	0.66	−0.01 to 1.34
	Single large-scale mtDNA deletion	90	34	56	47	18–85	−0.27	−0.52 to −0.03	78	0.68	0.33 to 1.03
	Other^a	54	20	34	42	20–77	−0.33	−0.59 to −0.06	40	0.72	0.23 to 1.20
Nuclear DNA mutations
	OPA1	17	5	12	46	18–72	−0.28	−0.91 to 0.35	13	2.11	1.56 to 2.67
	POLG	27	11	16	49	19–80	−0.09	−0.50 to 0.31	19	1.00	−0.03 to 1.96
	RRM2B	17	5	12	59	31–76	−0.30	−0.88 to 0.29	14	0.97	0.34 to 1.60
	TWINK	40	15	25	58	18–82	−0.42	−0.73 to −0.11	32	1.32	0.79 to 1.85
	Other multiple deletion	27	12	15	63	45–77	−0.69	−1.22 to −0.16	15	1.27	0.64 to 1.91
	Other^b	18	9	9	39	18–81	−0.66	−1.24 to −0.09	14	0.00	−1.60 to 1.61

Genetic ID	Genetic Diagnosis	Number of Patients	Male	Female	Mean Age at Height Measurement	Age Range	Mean Height SD	95% CI of the Mean for Height SD	Number of Patients With BMI	Mean BMI SD	95% CI of the Mean for BMI SD
All cohort		575	220	355	46	18–85	−0.49	−0.58 to −0.39	472	0.52	0.37 to 0.67
Primary mtDNA mutations
	m.14709T>C	11	1	10	48	26–64	0.30	−0.57 to 1.17	7	−0.24	−3.00 to 2.53
	m.3243A>G	234	95	139	42	18–79	−0.70	−0.85 to −0.55	212	0.12	−0.10 to 0.34
	m.8344A>G	40	13	27	45	20–69	−0.41	−0.72 to −0.11	28	0.66	−0.01 to 1.34
	Single large-scale mtDNA deletion	90	34	56	47	18–85	−0.27	−0.52 to −0.03	78	0.68	0.33 to 1.03
	Other^a	54	20	34	42	20–77	−0.33	−0.59 to −0.06	40	0.72	0.23 to 1.20
Nuclear DNA mutations
	OPA1	17	5	12	46	18–72	−0.28	−0.91 to 0.35	13	2.11	1.56 to 2.67
	POLG	27	11	16	49	19–80	−0.09	−0.50 to 0.31	19	1.00	−0.03 to 1.96
	RRM2B	17	5	12	59	31–76	−0.30	−0.88 to 0.29	14	0.97	0.34 to 1.60
	TWINK	40	15	25	58	18–82	−0.42	−0.73 to −0.11	32	1.32	0.79 to 1.85
	Other multiple deletion	27	12	15	63	45–77	−0.69	−1.22 to −0.16	15	1.27	0.64 to 1.91
	Other^b	18	9	9	39	18–81	−0.66	−1.24 to −0.09	14	0.00	−1.60 to 1.61

Other primary mtDNA mutations include m.11778G>A, m.12147G>A, m.12148T>C, m.12258C>A, m.12271T>C, m.12283A>G, m.12315G>A, m.12320A>G, m.13051A>G, m.13094T>C, m.13513G>A, m.14674T>C, m.15699G>C, m.16002T>C, m.16023G>A, m.1624C>T, m.3243A>T, m.3365T>C, m.3460G>A, m.4175G>A, m.4267A>G, m.4298G>A, m.4300A>G, m.5543T>C, m.5650A>G, m.5690A>G, m.618T>G, m.7497G>A, m.7587T>C, m.7989T>C, m.8839G>C, m.8851T>C, m.8993T>C, m.8993T>G, m.9176T>C, and m.9185T>C.

Other nuclear DNA mutations include the following: AFG3L2 encodes AFG3-like protein 2, ETFDH encodes electron transfer flavoprotein dehydrogenase, GFER encodes growth factor augmenter of liver regeneration, MTFMT encodes mitochondrial methionyl-tRNA formyltransferase, OPA1 encodes dynamin-like 120-kDa protein, PDH encodes pyruvate dehydrogenase complex, POLG encodes the α-subunit of mitochondrial polymerase-γ, RRM2B encodes ribonucleotide reductase regulatory TP53 inducible subunit M2B, SDHA encodes succinate dehydrogenase complex subunit A, SPG7 encodes paraplegin, TRIT1 encodes tRNA isopentenyltransferase, TWNK (previously also known as PEO1) encodes twinkle helicase, TYMP encodes thymidine phosphorylase, and YARS2 encodes tryosyl-tRNA synthetase.

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