#616887
Table of Contents
A number sign (#) is used with this entry because of evidence that autosomal recessive intellectual developmental disorder-52 (MRT52) is caused by homozygous mutation in the LMAN2L gene (609552) on chromosome 2q11. One such family has been reported.
Autosomal dominant intellectual developmental disorder-69 (MRD69; 617863) is also caused by mutation in the LMAN2L gene.
Rafiullah et al. (2016) reported a large multigenerational consanguineous Pakistani family in which 7 individuals had global developmental delay and severely impaired intellectual development with poor speech. Ranging in age from 7 to 25 years, all were completely dependent for all activities of daily living. The patients also had mild seizures in early childhood that spontaneously remitted by around 5 years of age. Two of the patients died at age 7 and 16 years. None had dysmorphic features.
The transmission pattern of MRT52 in the family reported by Rafiullah et al. (2016) was consistent with autosomal recessive inheritance.
In affected members of a Pakistani family with MRT52, Rafiullah et al. (2016) identified a homozygous missense mutation in the LMAN2L gene (R53Q; 609552.0001). The mutation was found by whole-exome sequencing and segregated with the disorder in the family. Patient cells had no evidence of glycosylation defects. Additional functional studies were not performed.
Rafiullah, R., Aslamkhan, M., Paramasivam, N., Thiel, C., Mustafa, G., Wiemann, S., Schlesner, M., Wade, R. C., Rappold, G. A., Berkel, S. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. J. Med. Genet. 53: 138-144, 2016. [PubMed: 26566883, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 88616; DO: 0081215;
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
2q11.2 | ?Intellectual developmental disorder, autosomal recessive 52 | 616887 | Autosomal recessive | 3 | LMAN2L | 609552 |
A number sign (#) is used with this entry because of evidence that autosomal recessive intellectual developmental disorder-52 (MRT52) is caused by homozygous mutation in the LMAN2L gene (609552) on chromosome 2q11. One such family has been reported.
Autosomal dominant intellectual developmental disorder-69 (MRD69; 617863) is also caused by mutation in the LMAN2L gene.
Rafiullah et al. (2016) reported a large multigenerational consanguineous Pakistani family in which 7 individuals had global developmental delay and severely impaired intellectual development with poor speech. Ranging in age from 7 to 25 years, all were completely dependent for all activities of daily living. The patients also had mild seizures in early childhood that spontaneously remitted by around 5 years of age. Two of the patients died at age 7 and 16 years. None had dysmorphic features.
The transmission pattern of MRT52 in the family reported by Rafiullah et al. (2016) was consistent with autosomal recessive inheritance.
In affected members of a Pakistani family with MRT52, Rafiullah et al. (2016) identified a homozygous missense mutation in the LMAN2L gene (R53Q; 609552.0001). The mutation was found by whole-exome sequencing and segregated with the disorder in the family. Patient cells had no evidence of glycosylation defects. Additional functional studies were not performed.
Rafiullah, R., Aslamkhan, M., Paramasivam, N., Thiel, C., Mustafa, G., Wiemann, S., Schlesner, M., Wade, R. C., Rappold, G. A., Berkel, S. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. J. Med. Genet. 53: 138-144, 2016. [PubMed: 26566883] [Full Text: https://doi.org/10.1136/jmedgenet-2015-103179]
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