#609583
Table of Contents
A number sign (#) is used with this entry because of evidence that Joubert syndrome-4 (JBTS4) is caused by homozygous deletion in the NPHP1 gene (607100) on chromosome 2q13.
Nephronophthisis-1 (NPHP1; 256100) and Senior-Loken syndrome-1 (SLSN1; 256100) are also caused by deletion in the NPHP1 gene.
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.
Parisi et al. (2004) reported 2 sibs with a relatively mild form of Joubert syndrome. One sib had mild gross motor delay, mild cognitive impairment, hypotonia, congenital head tilt, abnormal eye movements consistent with oculomotor apraxia, and nephronophthisis diagnosed at age 10 years. MRI scan showed hypoplasia of the cerebellar vermis and the 'molar tooth sign.' Her sister had similar findings, but had normal cognitive function and was without renal involvement at age 8 years. Neither sib had retinal dystrophy or abnormal breathing patterns in infancy.
The transmission pattern of Joubert syndrome-4 in the family reported by Parisi et al. (2004) was consistent with autosomal recessive inheritance.
In 2 sibs with Joubert syndrome, Parisi et al. (2004) demonstrated homozygous deletion of the NPHP1 gene (607100.0005) identical to that which causes juvenile nephronophthisis (256100). The authors concluded that mutations in the NPHP1 gene are a rare cause of Joubert syndrome.
Parisi et al. (2006) screened 117 patients with Joubert syndrome for deletion of the NPHP1 gene. They found no additional mutation carriers aside from the patients identified by Parisi et al. (2004) and a 3-year-old Italian girl identified by Castori et al. (2005). Parisi et al. (2006) noted that the molar tooth sign in these patients had a distinctive appearance, with elongated but not thickened superior cerebellar peduncles.
Castori, M., Valente, E. M., Donati, M. A., Salvi, S., Fazzi, E., Procopio, E., Galluccio, T., Emma, F., Dallapiccola, B., Bertini, E, Italian MTS Study Group. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J. Med. Genet. 42: e9, 2005. [PubMed: 15689444, related citations] [Full Text]
Parisi, M. A., Bennett, C. L., Eckert, M. L., Dobyns, W. B., Gleeson, J. G., Shaw, D. W. W., McDonald, R., Eddy, A., Chance, P. F., Glass, I. A. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am. J. Hum. Genet. 75: 82-91, 2004. [PubMed: 15138899, images, related citations] [Full Text]
Parisi, M. A., Doherty, D., Eckert, M. L., Shaw, D. W. W., Ozyurek, H., Aysun, S., Giray, O., Al Swaid, A., Al Shahwan, S., Dohayan, N., Bakhsh, E., Indridason, O. S., Dobyns, W. B., Bennett, C. L., Chance, P. F., Glass, I. A. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J. Med. Genet. 43: 334-339, 2006. [PubMed: 16155189, images, related citations] [Full Text]
ORPHA: 220497, 475; DO: 0110999;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 2q13 | Joubert syndrome 4 | 609583 | Autosomal recessive | 3 | NPHP1 | 607100 |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-4 (JBTS4) is caused by homozygous deletion in the NPHP1 gene (607100) on chromosome 2q13.
Nephronophthisis-1 (NPHP1; 256100) and Senior-Loken syndrome-1 (SLSN1; 256100) are also caused by deletion in the NPHP1 gene.
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.
Parisi et al. (2004) reported 2 sibs with a relatively mild form of Joubert syndrome. One sib had mild gross motor delay, mild cognitive impairment, hypotonia, congenital head tilt, abnormal eye movements consistent with oculomotor apraxia, and nephronophthisis diagnosed at age 10 years. MRI scan showed hypoplasia of the cerebellar vermis and the 'molar tooth sign.' Her sister had similar findings, but had normal cognitive function and was without renal involvement at age 8 years. Neither sib had retinal dystrophy or abnormal breathing patterns in infancy.
The transmission pattern of Joubert syndrome-4 in the family reported by Parisi et al. (2004) was consistent with autosomal recessive inheritance.
In 2 sibs with Joubert syndrome, Parisi et al. (2004) demonstrated homozygous deletion of the NPHP1 gene (607100.0005) identical to that which causes juvenile nephronophthisis (256100). The authors concluded that mutations in the NPHP1 gene are a rare cause of Joubert syndrome.
Parisi et al. (2006) screened 117 patients with Joubert syndrome for deletion of the NPHP1 gene. They found no additional mutation carriers aside from the patients identified by Parisi et al. (2004) and a 3-year-old Italian girl identified by Castori et al. (2005). Parisi et al. (2006) noted that the molar tooth sign in these patients had a distinctive appearance, with elongated but not thickened superior cerebellar peduncles.
Castori, M., Valente, E. M., Donati, M. A., Salvi, S., Fazzi, E., Procopio, E., Galluccio, T., Emma, F., Dallapiccola, B., Bertini, E, Italian MTS Study Group. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J. Med. Genet. 42: e9, 2005. [PubMed: 15689444] [Full Text: https://doi.org/10.1136/jmg.2004.027375]
Parisi, M. A., Bennett, C. L., Eckert, M. L., Dobyns, W. B., Gleeson, J. G., Shaw, D. W. W., McDonald, R., Eddy, A., Chance, P. F., Glass, I. A. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am. J. Hum. Genet. 75: 82-91, 2004. [PubMed: 15138899] [Full Text: https://doi.org/10.1086/421846]
Parisi, M. A., Doherty, D., Eckert, M. L., Shaw, D. W. W., Ozyurek, H., Aysun, S., Giray, O., Al Swaid, A., Al Shahwan, S., Dohayan, N., Bakhsh, E., Indridason, O. S., Dobyns, W. B., Bennett, C. L., Chance, P. F., Glass, I. A. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J. Med. Genet. 43: 334-339, 2006. [PubMed: 16155189] [Full Text: https://doi.org/10.1136/jmg.2005.036608]
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