#617121
Table of Contents
A number sign (#) is used with this entry because of evidence that Joubert syndrome-28 (JBTS28) is caused by homozygous or compound heterozygous mutation in the MKS1 gene (609883) on chromosome 17q22.
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.
Romani et al. (2014) reported 2 unrelated patients, a 44-year-old man (COR340) and a 2-year-old child (COR413), with a relatively mild form of Joubert syndrome. Both had developmental delay, oculomotor abnormalities such as nystagmus or oculomotor apraxia, hypotonia and/or ataxia, and the molar tooth sign on brain imaging. In the text, patient COR413 was reported to have normal intellectual abilities, but in Table 1, patient COR413 was noted to have intellectual disability. The 44-year-old man had retinal dystrophy and intellectual disability, but other organ systems were not involved in either case.
The transmission pattern of JBTS28 in the families reported by Romani et al. (2014) was consistent with autosomal recessive inheritance.
In 2 unrelated individuals with JBTS28, Romani et al. (2014) identified biallelic mutations in the MKS1 gene (609883.0010-609883.0012). The mutations segregated with the disorder in the families and were not found in public databases. Functional studies of the variants and studies of patient cells were not performed. The patients were part of a group of 260 JBTS patients who were screened for mutations in ciliopathy genes.
Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carlucio, M. A., Darra, F., Mate, A., Zimmermann, A., Gouider-Khouja, N., Valente, E. M. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J. Rare Dis. 9: 72, 2014. Note: Electronic Article. [PubMed: 24886560, related citations] [Full Text]
ORPHA: 220493, 475; DO: 0110997;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q22 | Joubert syndrome 28 | 617121 | Autosomal recessive | 3 | MKS1 | 609883 |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-28 (JBTS28) is caused by homozygous or compound heterozygous mutation in the MKS1 gene (609883) on chromosome 17q22.
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.
Romani et al. (2014) reported 2 unrelated patients, a 44-year-old man (COR340) and a 2-year-old child (COR413), with a relatively mild form of Joubert syndrome. Both had developmental delay, oculomotor abnormalities such as nystagmus or oculomotor apraxia, hypotonia and/or ataxia, and the molar tooth sign on brain imaging. In the text, patient COR413 was reported to have normal intellectual abilities, but in Table 1, patient COR413 was noted to have intellectual disability. The 44-year-old man had retinal dystrophy and intellectual disability, but other organ systems were not involved in either case.
The transmission pattern of JBTS28 in the families reported by Romani et al. (2014) was consistent with autosomal recessive inheritance.
In 2 unrelated individuals with JBTS28, Romani et al. (2014) identified biallelic mutations in the MKS1 gene (609883.0010-609883.0012). The mutations segregated with the disorder in the families and were not found in public databases. Functional studies of the variants and studies of patient cells were not performed. The patients were part of a group of 260 JBTS patients who were screened for mutations in ciliopathy genes.
Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carlucio, M. A., Darra, F., Mate, A., Zimmermann, A., Gouider-Khouja, N., Valente, E. M. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J. Rare Dis. 9: 72, 2014. Note: Electronic Article. [PubMed: 24886560] [Full Text: https://doi.org/10.1186/1750-1172-9-72]
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