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Joubert syndrome: Molecular basis and treatment

Lidvana Spahiu
Lidvana Spahiu
, 
Emir Behluli
Emir Behluli
, 
Violeta Grajçevci-Uka
Violeta Grajçevci-Uka
, 
Thomas Liehr
Thomas Liehr
 et 
Gazmend Temaj
Gazmend Temaj
   | 22 févr. 2023
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Article Category: Review articles
Publié en ligne: 22 févr. 2023
Pages: 118 - 123
Reçu: 13 juil. 2022
Accepté: 30 sept. 2022
DOI: https://doi.org/10.34763/jmotherandchild.20222601.d-22-00034
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© 2022 Lidvana Spahiu et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.

Figure 1

Renal ciliopathies like Joubert syndrome (JS), Bardet-Biedl syndrome (BBS) and nephronophthsis (NPHP) and the known reported genes associated with them are shown in context of the human cell. All of the genes/ their products are connected to basal body and/ or cilia.
Renal ciliopathies like Joubert syndrome (JS), Bardet-Biedl syndrome (BBS) and nephronophthsis (NPHP) and the known reported genes associated with them are shown in context of the human cell. All of the genes/ their products are connected to basal body and/ or cilia.

Other gene mutation in patients with Joubert syndrome besides those given in Table 1.

Gene/Locus Position mutated Amino acid change Reference
TMEM216 p.R73L; p.R73C [9, 54]
TMEM237 pR18 [36]
TMEM67 p.Asn242Ser [37]
TMEM67 p.Arg110Gly; p.Ser771Pro; p.Arg764*; p.Gly132Ala; p.Ser159Pro; p.Met252Thr; p.Tyr513*; p.Ala145Ser [15]
KIAA0586 (orthologue of TALPID3) c.230C>G p.Ser77* [44]
KIAA0586 (orthologue of TALPID3) c.230C>G [44]
TALPID3 c.428delG [45]
RPGRIP1L c.1810G>A p.Glu604Lys [46]
TMEM67/ RPGRIP1L c.6012-12T>A [15]
TMEM138/ BBS1 c.6012-12T>A [15]
INPP5E c.1064C>T p.T355M [47]
TTC21B c.2258C>T p.P753L [47]
INPP5E c.1565G>C p.Gly552Ala [48]
AHI1 c.703dupA p.Arg235LysfsTer12 [49]
AHI1 c.2212C>T p.Arg738Ter [49]
AHI1 p.Thr304AsnfsX6 [50]
AHI1 c.832C>T p.Gln278Ter [51]
BBS2 c.899A>G, c.1814C>G, c.2107C>T [52]
INPP5E c.1073C>T, c.1669C>T [52]
CACNA1F c.3582C>G, c.5704-5C>G [52]

The most frequent variant gene mutation in patients with Joubert syndrome in Ashkenazi, Hutterites community, Iranian, Japan and Kosovo populations

Gene/Locus Amino acid change Population Reference
TMEM216 p.R73L Ashkenazi population [9,36]
TMEM237 pR18 Hutterites community [9,36]
TMEM67 p.Asn242Ser Iranian families [37]
TMEM67 p.Arg110Gly; Japanese [15]
p.Ser771Pro;
p.Arg764*;
p.Gly132Ala;
p.Ser159Pro;
p.Met252Thr;
p.Tyr513*;
p.Ala145Ser
CEP290 c.5493delA, p.(A1832fs*19) Kosovo [43]
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