Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 12

Joubert syndrome type 12 is an autosomal recessive disorder caused by mutations in the KIF7 gene.

Systematic

Joubert syndrome
Joubert syndrome 01
Joubert syndrome 02
Joubert syndrome 03
Joubert syndrome 04
Joubert syndrome 05
Joubert syndrome 06
Joubert syndrome 07
Joubert syndrome 08
Joubert syndrome 09
Joubert syndrome 10
Joubert syndrome 11
Joubert syndrome 12
KIF7
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 29
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35

References:

1.

Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

[^]
2.

Dafinger C et al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

[^]
3.

Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

[^]
4.

None (1979) Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

[^]
5.

Brueton LA et al. (1992) The acrocallosal syndrome and Greig syndrome are not allelic disorders.

[^]
6.

Cataltepe S et al. (1992) A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.

[^]
7.

Pfeiffer RA et al. (1992) Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.

[^]
8.

Gelman-Kohan Z et al. (1991) Further delineation of the acrocallosal syndrome.

[^]
9.

Lungarotti MS et al. (1991) Acrocallosal syndrome: a new case.

[^]
10.

Fryns JP et al. (1991) The variable clinical spectrum and mental prognosis of the acrocallosal syndrome.

[^]
11.

Turolla L et al. (1990) How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

[^]
12.

Yüksel M et al. (1990) The acrocallosal syndrome in a Turkish boy.

[^]
13.

Hendriks HJ et al. (1990) Acrocallosal syndrome.

[^]
14.

Temtamy SA et al. (1989) Hypogenitalism in the acrocallosal syndrome.

[^]
15.

Casamassima AC et al. (1989) Acrocallosal syndrome: additional manifestations.

[^]
16.

Salgado LJ et al. (1989) Acrocallosal syndrome in a girl born to consanguineous parents.

[^]
17.

Moeschler JB et al. (1989) Acrocallosal syndrome: new findings.

[^]
18.

Philip N et al. (1988) The acrocallosal syndrome.

[^]
19.

None (1988) The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

[^]
20.

Schinzel A et al. (1986) The acrocallosal syndrome in sisters.

[^]
21.

Legius E et al. (1985) Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?

[^]
22.

Nelson MM et al. (1982) The acrocallosal syndrome.

[^]
23.

Schinzel A et al. (1980) Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

[^]
24.

Christianson AL et al. (1994) Acrocallosal syndrome in two African brothers born to consanguineous parents.

[^]
25.

Kedar I et al. (1996) Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome.

[^]
26.

Koenig R et al. (2002) Spectrum of the acrocallosal syndrome.

[^]
27.

Elson E et al. (2002) De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

[^]
28.

None (2008) The Greig cephalopolysyndactyly syndrome.

[^]
29.

Aykut A et al. (2008) An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

[^]
30.

OMIM.ORG article

Omim 200990 [^]
31.

Wikipedia article

Wikipedia EN (Joubert_syndrome) [^]
Update: May 9, 2019