Meckel Syndrome, Type 11

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

TMEM67, CEP290, MKS1, CC2D2A, TMEM231, RPGRIP1L, B9D1, TCTN2, CSPP1, CEP55, WDPCP, TMEM216, RPGRIP1, TMEM107, B9D2, TXNDC15, EXOC3L2, EXOC4, EVC2, TMEM237, LPO, MARK4, TMEM138, KIAA0586, TCTN1, JBS

Drugs

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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).

Clinical Features

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.

Inheritance

The transmission pattern of MKS11 in the family reported by Shaheen et al. (2013) was consistent with autosomal recessive inheritance.

Molecular Genetics

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).