Editing Joubert syndrome (section)

== Genetics ==
Several [[mutation]]s have been identified in individuals with Joubert syndrome (JBTS) which allowed for classification of the disorder into subtypes.<ref>{{Citation|last1=Parisi|first1=Melissa|title=Joubert Syndrome|date=1993|url=http://www.ncbi.nlm.nih.gov/books/NBK1325/|work=GeneReviews®|editor-last=Adam|editor-first=Margaret P.|place=Seattle (WA)|publisher=University of Washington, Seattle|pmid=20301500|access-date=2022-02-11|last2=Glass|first2=Ian|editor2-last=Ardinger|editor2-first=Holly H.|editor3-last=Pagon|editor3-first=Roberta A.|editor4-last=Wallace|editor4-first=Stephanie E.}}</ref>

This disorder can be caused by mutations in more than 30 genes within genetic makeup.  The [[primary cilia]] play an important role in the structure and function of cells.  When primary cilia are mutated and defective, it can cause various genetic disorders among individuals.  This mutation of primary cilia can disrupt significant signaling pathways during the development of the fetus.<ref>{{cite journal | vauthors = Waters AM, Beales PL | title = Ciliopathies: an expanding disease spectrum | journal = Pediatric Nephrology | volume = 26 | issue = 7 | pages = 1039–56 | date = July 2011 | pmid = 21210154 | pmc = 3098370 | doi = 10.1007/s00467-010-1731-7 }}</ref>

Mutations in these various genes are known to cause around 60-90% of Joubert Syndrome cases.  In the remaining cases, the cause is unknown if not linked to a mutation of known genes.<ref name=":2">{{Cite web|url=https://ghr.nlm.nih.gov/condition/joubert-syndrome#genes|title=Joubert syndrome|website=Genetics Home Reference|language=en|access-date=2017-09-13}}</ref>
{| class="wikitable" style="width: 90%; margin-left: auto; margin-right: auto;"
|-
! style="width:4em;"|Type
! style="width:5em;"|[[OMIM]]
! style="width:6em;"|[[Gene]]
! style="width:5em;"|[[Locus (genetics)|Locus]]
! style="width:10em;"|[[Mendelian inheritance|Inheritance]]
! Remarks
|-
| JBTS1
| {{OMIM|213300||none}}
| ''[[INPP5E]]''
| 9q34.3
| [[Autosomal recessive]]
| Also known as ''Cerebellooculorenal syndrome 1'' (''CORS1'')
|-
| JBTS2
| {{OMIM|608091||none}}
| ''[[TMEM216]]''
| 11q12.2
| [[Autosomal recessive]]
| Also known as ''Cerebellooculorenal syndrome 2'' (''CORS2'')
|-
| JBTS3
| {{OMIM|608629||none}}
| ''[[AHI1]]''
| 6q23.3
| [[Autosomal recessive]]
|
|-
| JBTS4
| {{OMIM|609583||none}}
| ''[[NPHP1]]''
| 2q13
|
|
|-
| JBTS5
| {{OMIM|610188||none}}
| ''[[CEP290]]''<br />''[[NPHP6]]''
| 12q21.32
| [[Autosomal recessive]]
|
|-
| JBTS6
| {{OMIM|610688||none}}
| ''[[TMEM67]]''
| 8q22.1
| [[Autosomal recessive]]
|
|-
| JBTS7
| {{OMIM|611560||none}}
| ''[[RPGRIP1L]]''
| 16q12.2
|
|
|-
| JBTS8
| {{OMIM|612291||none}}
| ''[[ARL13B]]''
| 3q11.1
|
|
|-
| JBTS9
| {{OMIM|612285||none}}
| ''[[CC2D2A]]''
| 4p15.32
| [[Autosomal recessive]]
|
|-
| JBTS10
| {{OMIM|300804||none}}
| ''[[OFD1]]''
| Xp22.2
| [[X-linked recessive]]
|
|-
| JBTS11
| –
| ''[[TTC21B]]''
| 2q24.3
|
|
|-
| JBTS12
| –
| ''[[KIF7]]''
| 15q26.1
|
| Overlapping phenotype with [[acrocallosal syndrome]]<ref>{{OMIM|200990}}</ref>
|-
| JBTS13
| {{OMIM|614173||none}}
| ''[[TCTN1]]''
| 12q24.11
|
|
|-
| JBTS14
| {{OMIM|614424||none}}
| ''[[TMEM237]]''
| 2q33.1
| [[Autosomal recessive]]
|
|-
| JBTS15
| {{OMIM|614464||none}}
| ''[[CEP41]]''
| 7q32.2
| [[Autosomal recessive]]
|
|-
| JBTS16
| {{OMIM|614465||none}}
| ''[[TMEM138]]''
| 11q12.2
| [[Autosomal recessive]]
|
|-
| JBTS17
| {{OMIM|614615||none}}
| ''[[C5ORF42]]''
| 5p13.2
|
|
|-
| JBTS18
| {{OMIM|614815||none}}
| ''[[TCTN3]]''
| 10q24.1
|
|
|-
| JBTS19
| –
| ''[[ZNF423]]''
| 16q12.1
| [[Autosomal dominant]]
|
|-
| JBTS20
| {{OMIM|614970||none}}
| ''[[TMEM231]]''
| 16q23.1
| [[Autosomal recessive]]
|
|-
|
| {{OMIM|611654||none}}
| ''[[CSPP1]]'',<ref name="Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans">{{cite journal | vauthors = Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS | display-authors = 6 | title = Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans | journal = American Journal of Human Genetics | volume = 94 | issue = 1 | pages = 73–9 | date = January 2014 | pmid = 24360803 | pmc = 3882732 | doi = 10.1016/j.ajhg.2013.11.010 }}</ref><ref name="Mutations in CSPP1 Lead to Classical Joubert Syndrome">{{cite journal | vauthors = Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG | display-authors = 6 | title = Mutations in CSPP1 lead to classical Joubert syndrome | journal = American Journal of Human Genetics | volume = 94 | issue = 1 | pages = 80–6 | date = January 2014 | pmid = 24360807 | pmc = 3882909 | doi = 10.1016/j.ajhg.2013.11.015 }}</ref><ref name="Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy">{{cite journal | vauthors = Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ | display-authors = 6 | title = Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy | journal = American Journal of Human Genetics | volume = 94 | issue = 1 | pages = 62–72 | date = January 2014 | pmid = 24360808 | pmc = 3882733 | doi = 10.1016/j.ajhg.2013.11.019 }}</ref>
| 8q13.2
| [[Autosomal recessive]]
|
|-
|
| -
| ''[[ARMC9]]''
| 2q37.1
| [[Autosomal recessive]]
|
|-
|
|
| ''[[FAM149B1]]''
| 10q22.2
| [[Autosomal recessive]]
|
|-
|}