ORPHA: 564;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 16q23.1 | Meckel syndrome 11 | 615397 | Autosomal recessive | 3 | TMEM231 | 614949 |
A number sign (#) is used with this entry because of evidence that Meckel syndrome type 11 (MKS11) is caused by homozygous mutation in the TMEM231 gene (614949) on chromosome 16q23.
For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).
Shaheen et al. (2013) reported a consanguineous Arab family in which 2 pregnancies were lost because of Meckel syndrome, which was diagnosed prenatally in both cases; 1 was spontaneously aborted, whereas the other was terminated. The second affected pregnancy was complicated by oligohydramnios; prenatal ultrasound showed occipital encephalocele, polydactyly, and polycystic kidney. An unrelated fetus of Arab origin with a similar phenotype was also reported.
The transmission pattern of MKS11 in the family reported by Shaheen et al. (2013) was consistent with autosomal recessive inheritance.
In a patient, born of consanguineous Arab parents, with Meckel syndrome type 11, Shaheen et al. (2013) identified a homozygous mutation in the TMEM231 gene (614949.0003). An unrelated Arab patient with the disorder carried a different homozygous mutation in the TMEM231 gene (614949.0004).
Shaheen, R., Ansari, S., Al Mardawi, E., Alshammari, M. J., Alkuraya, F. S. Mutations in TMEM231 cause Meckel-Gruber syndrome. J. Med. Genet. 50: 160-162, 2013. [PubMed: 23349226] [Full Text: https://doi.org/10.1136/jmedgenet-2012-101431]