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Table 1 The demographics and CSF1R variants of the patients with BANDDOS

From: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP

No

Paper

CSF1R mutations

Sex

Ethnicity

Consanguinity of the parents

Gestational age (weeks)

Birth weight (g)

Birth length (cm)

Age of onset

Follow-up duration (years)

Age at last follow-up (years)

Weight at last follow-up (kg)

Height at last follow-up (cm)

Age of death

Brain autopsy

1

Monies et al. (2017)

*bi-allelic c.1620T > A

N/R

Arab

Yes

N/R

N/R

N/R

N/R

N/R

N/R

N/R

N/R

Infancy (details not reported)

No

2

Monies et al. (2017)

*bi-allelic c.1620T > A

N/R

Arab

Yes

N/R

N/R

N/R

N/R

N/R

N/R

N/R

N/R

Infancy (details not reported)

No

3

Guo et al. (2019)

Allele 1: c.395 C > T, Allele 2: c.1441 C > T

Male

Brazilian

No

Early term (37 weeks 5 days)

4270

50

Prenatal

5

4.8

Low (14.5 kg, 5–10 percentile)

Short (94.5 cm, Z-score − 2.8)

N/A

N/A

4

Guo et al. (2019)

Allele 1: c.1859-119G > A

Allele 2: c.1879_1881del

Female

Japanese

No

Full term

N/R

N/R

28 years

9

37

Normal (42.8 kg)

Normal (152.7 cm)

N/A

N/A

5

Guo et al. (2019) & Helman et al. (2020)

bi-allelic c.1969 + 115_1969 + 116del

Female

Chaldean

Yes

Full term

N/R

N/R

N/R

N/R

23

Normal (45.9 kg)

Normal (153.2 cm)

N/A

N/A

6

Guo et al. (2019) & Helman et al. (2020)

bi-allelic c.1969 + 115_1969 + 116del

Male

Chaldean

Yes

Full term

3300

N/R

Perinatal

14

14

Normal (50 kg)

Short (148 cm)

N/A

N/A

7

Guo et al. (2019) & Helman et al. (2020)

bi-allelic c.1969 + 115_1969 + 116del

Female

Chaldean

Yes

N/R

N/R

N/R

Perinatal

N/R

N/R

N/R

N/R

N/A

N/A

8

Guo et al. (2019) & Helman et al. (2020)

bi-allelic c.1969 + 115_1969 + 116del

Female

Chaldean

Yes

N/R

N/R

N/R

N/R

N/R

N/R

N/R

N/R

N/A

N/R

9

Guo et al. (2019) & Helman et al. (2020)

bi-allelic c.1969 + 115_1969 + 116del

Female

Chaldean

Yes

N/R

N/R

N/R

N/R

N/R

N/R

N/R

N/R

Deceased (age not reported)

N/R

10

Oosterhof et al. (2019)

bi-allelic c.1754-1G > C

Male

Native American

Yes

Pre-term (35 weeks 4 days)

4106

 N/R

Prenatal

1

0.8

 N/R

N/R

10 months

Yes

11

Oosterhof et al. (2019)

bi-allelic c.1929 C > A

Male

Arab

Yes

N/R

N/R

N/R

12 years old

12

24

N/R

N/R

N/A

N/A

12

Tamhankar et al. (2020)

bi-allelic c.2498 C > T

Female

Indian

Yes

N/R

N/R

N/R

2 years old

8

12

N/R

N/R

12 years

N/R

13

Tamhankar et al. (2020)

bi-allelic c.2498 C > T

Male

Indian

Yes

N/R

N/R

N/R

4 years old

0.67

4.67

 N/R

N/R

4 years 8 months

N/R

14

Kındıs et al. (2021)

bi-allelic c.2763 + 1G > T

Female

Turkish

Yes

Full term

3250

N/R

Infancy

10

10

N/R

N/R

N/A

N/A

15

Kındıs et al. (2021)

bi-allelic c.2763 + 1G > T

Male

Turkish

Yes

Full term

3600

N/R

Perinatal

7

7

Normal (28 kg)

Normal (116.5 cm)

N/A

N/A

16

Kındıs et al. (2021)

bi-allelic c.2763 + 1G > T

Female

Turkish

Yes

Full term

3500

N/R

Infancy

16

16

Normal (54 kg)

Normal (158 cm)

N/A

N/A

17

Our case

bi-allellic c.1754G > T

Female

Brazilian

Yes

Full term

3050

50

7 years old

11

18

50

152

N/A

N/A

18

Our case

bi-allellic c.1754G > T

Male

Brazilian

Yes

Full term

3500

50

15 years old

11

15

62

160

N/A

N/A

19

Our case

bi-allellic c.1754G > T

Female

Brazilian

Yes

Full term

3950

50

Asymptomatic

9

9

42

145

N/A

N/A

  1. *Presumed (detected in a heterozygote state in parents); F = female; M = male; N/A = non-applicable; N/R = not reported;
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172