#617863
Table of Contents
A number sign (#) is used with this entry because of evidence that autosomal dominant intellectual developmental disorder-69 (MRD69) is caused by heterozygous mutation in the LMAN2L gene (609552) on chromosome 2q11. One such family has been reported.
Autosomal recessive intellectual developmental disorder-52 (MRT52; 616887) is also caused by mutation in the LMAN2L gene.
Autosomal dominant intellectual developmental disorder-69 (MRD69) is characterized by developmental delay with variably impaired intellectual development. Additional features may include intention tremor in infancy and seizures in childhood, with remission of these in adolescence (Alkhater et al., 2019).
Alkhater et al. (2019) reported a family in which a father and his 3 sons had varying degrees of intellectual disability and onset of an intention tremor in infancy and seizures in childhood, with remission of tremor and seizures in adolescence. The sons had mildly impaired intellectual development, although they had limited to no language. The father was least affected, with low-average intellectual function (18th percentile) and education limited to middle school. Alkhater et al. (2019) noted that the phenotype was similar to that in autosomal recessive MRT52 but with less severely impaired intellectual development.
The transmission pattern of MRD69 in the family reported by Alkhater et al. (2019) was consistent with autosomal dominant inheritance.
In a father and his 3 sons with MRD69, Alkhater et al. (2019) identified a heterozygous 1-bp deletion in the LMAN2L gene (c.1073delT; 609352.0002). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family.
Alkhater, R. A., Wang, P., Ruggieri, A., Israelian, L., Walker, S., Scherer, S. W., Smith, M. L., Minassian, B. A. Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. Ann. Clin. Transl. Neurol. 6: 807-811, 2019. [PubMed: 31020005, images, related citations] [Full Text]
Alternative titles; symbols
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
2q11.2 | ?Intellectual developmental disorder, autosomal dominant 69 | 617863 | Autosomal dominant | 3 | LMAN2L | 609552 |
A number sign (#) is used with this entry because of evidence that autosomal dominant intellectual developmental disorder-69 (MRD69) is caused by heterozygous mutation in the LMAN2L gene (609552) on chromosome 2q11. One such family has been reported.
Autosomal recessive intellectual developmental disorder-52 (MRT52; 616887) is also caused by mutation in the LMAN2L gene.
Autosomal dominant intellectual developmental disorder-69 (MRD69) is characterized by developmental delay with variably impaired intellectual development. Additional features may include intention tremor in infancy and seizures in childhood, with remission of these in adolescence (Alkhater et al., 2019).
Alkhater et al. (2019) reported a family in which a father and his 3 sons had varying degrees of intellectual disability and onset of an intention tremor in infancy and seizures in childhood, with remission of tremor and seizures in adolescence. The sons had mildly impaired intellectual development, although they had limited to no language. The father was least affected, with low-average intellectual function (18th percentile) and education limited to middle school. Alkhater et al. (2019) noted that the phenotype was similar to that in autosomal recessive MRT52 but with less severely impaired intellectual development.
The transmission pattern of MRD69 in the family reported by Alkhater et al. (2019) was consistent with autosomal dominant inheritance.
In a father and his 3 sons with MRD69, Alkhater et al. (2019) identified a heterozygous 1-bp deletion in the LMAN2L gene (c.1073delT; 609352.0002). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family.
Alkhater, R. A., Wang, P., Ruggieri, A., Israelian, L., Walker, S., Scherer, S. W., Smith, M. L., Minassian, B. A. Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. Ann. Clin. Transl. Neurol. 6: 807-811, 2019. [PubMed: 31020005] [Full Text: https://doi.org/10.1002/acn3.727]
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