ORPHA: 564; DO: 0070119;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 16q12.2 | Meckel syndrome 5 | 611561 | Autosomal recessive | 3 | RPGRIP1L | 610937 |
A number sign (#) is used with this entry because Meckel syndrome type 5 (MKS5) is caused by homozygous or compound heterozygous mutation in the RPGRIP1L gene (610937) on chromosome 16q12.
For a general description of Meckel syndrome, see MKS1 (249000).
See also Joubert syndrome-7 (JBTS7; 611560), an allelic disorder with a less severe phenotype.
Delous et al. (2007) reported 3 fetuses with Meckel syndrome diagnosed at 15 to 16 weeks' gestation by ultrasound. Two were sibs of Moroccan origin. Ultrasound and post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, severe cystic kidney disease, and hepatic bile duct proliferation, and bowing of the long bones.
In 3 fetuses with Meckel syndrome type 5, Delous et al. (2007) identified homozygous or compound heterozygous truncating mutations in the RPGRIP1L gene (610937.0005-610937.0007) that all resulted in complete loss of protein function.
Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nature Genet. 39: 875-881, 2007. [PubMed: 17558409] [Full Text: https://doi.org/10.1038/ng2039]