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Table 4 Genetic results of 17 inpatients with Joubert syndrom (listed in ascending order by patients No., starting with No.1)

From: Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China

Patient No.

Sex

Age

Chromosome

location

Gene

locus

Gene/locus

MIM number

Hom/

Comp het

Nucleotide/amino acid

Inheritance pattern

Phenotype

in OMIM

ESRDa

HD/PDb

5

F

1y8m

Chr16:53652959 Chr16:53692387

RPGRIP1L

610,937

comp het

c.3354G > A/p.W1118X

c.1351-11A > G/−

AR

Joubert Syndrome 7

(+)

6

F

5y9m

Chr16:53720364

Chr16:53679824

RPGRIP1L

610,937

comp het

c.757C > T/p.G253T

c.2396G > A/p.C799T

AR

Joubert Syndrome 7

(+)

7

M

11y6m

Chr16:53683001

Chr16:53708929

RPGRIP1L

610,937

comp het

c.2179G > A/p.G727S

c.882G > T/p.E294D

AR

Joubert Syndrome 3

(+)

8

M

1y6m

Chr8:68026038

Chr8:68024300

CSPP1

611,654

comp het

c.1215-1_1220delinsATTTTGTTTAATTTTGTTTG/−

c.1214G > A/ p.A405G

AR

Joubert Syndrome 21

(−)

10

F

7 m

chr4:15552462

chr4:15511824

CC2D2A

612,013

comp het

c.2197G > A/ p.G733A

c.501G > T/ p.L167A

AR

Joubert Syndrome 9

(−)

12

M

2y3m

Chr5:37221504

Chr5:37162670

C5ORF42

614,571

comp het

c.2668C > T/ p.G890T

c.7589-2A > G/−

AR

Joubert Syndrome 17

(−)

13

M

4y5m

Chr5:37181031

Chr5:37213736

CPLANE1

614,571

comp het

c.5498C > A/p.S1833X

c.2845 T > C/p.Y949H

AR

Joubert Syndrome 17

(−)

14

M

11 m

Chr4:15552462

Chr4:15511824

CC2D2A

612,013

comp het

c.3866C > T/p.T1289I

c.4206G > A/p.W1402X

AR

Joubert Syndrome 9

(−)

15

M

15y8m

Chr3:93722607

Chr3:93722629

ARL13B

608,922

comp het

c.235C>T/p.R79W

c.257A>G/p.Y86C

AR

Joubert Syndrome 8

(−)

17

M

2y2m

Chr2:110917769

Chr2:110917769

NPHP1

607,100

hom

c.1186C>T/p.L396P

AR

Joubert syndrome 4

(+)

  1. aESRD: end stage renal disease; bHD/PD: Hemodialysis/Peritoneal dialysis