#300271
Table of Contents
A number sign (#) is used with this entry because of evidence that X-linked intellectual developmental disorder-72 (XLID72) is caused by hemizygous mutation in the RAB39B gene (300774) on chromosome Xq28.
Mutation in the RAB39B gene can also cause X-linked recessive early-onset Parkinson disease with impaired intellectual development, known as Waisman syndrome (WSMN; 311510).
Russo et al. (2000) reported a 3-generation Sardinian family segregating X-linked mental retardation. Three affected individuals had seizures and 1 had features of autism (see 209850).
Giannandrea et al. (2010) reported a large family with X-linked mental retardation spanning 2 generations. There were 6 affected males, all with macrocephaly. One had obesity and 2 had features of autism.
The transmission pattern of mental retardation in the family reported by Russo et al. (2000) was consistent with X-linked recessive inheritance.
In a 4-generation Sardinian family, Russo et al. (2000) observed 8 males with nonspecific X-linked mental retardation and 6 carrier females. Two-point linkage analysis demonstrated linkage to markers in Xq28; maximum lod score = 2.71 at theta = 0.00. The authors excluded involvement of the GDI1 gene (300104), which maps to the same region and is mutated in other families with nonspecific mental retardation (XLID41; 300849).
In 2 unrelated families with XLID72, including the family reported by Russo et al. (2000), Giannandrea et al. (2010) identified different hemizygous loss-of-function mutations in the RAB39B gene (300774.0001-300774.0002) that segregated with the disorder.
Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H.-H., Tzschach, A., and 11 others. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am. J. Hum. Genet. 86: 185-195, 2010. [PubMed: 20159109, images, related citations] [Full Text]
Russo, S., Cogliati, F., Cavalleri, F., Cassitto, M. G., Giglioli, R., Toniolo, D., Casari, G., Larizza, L. Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family. Am. J. Med. Genet. 94: 376-382, 2000. [PubMed: 11050621, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 777; DO: 0112059;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xq28 | Intellectual developmental disorder, X-linked 72 | 300271 | X-linked recessive | 3 | RAB39B | 300774 |
A number sign (#) is used with this entry because of evidence that X-linked intellectual developmental disorder-72 (XLID72) is caused by hemizygous mutation in the RAB39B gene (300774) on chromosome Xq28.
Mutation in the RAB39B gene can also cause X-linked recessive early-onset Parkinson disease with impaired intellectual development, known as Waisman syndrome (WSMN; 311510).
Russo et al. (2000) reported a 3-generation Sardinian family segregating X-linked mental retardation. Three affected individuals had seizures and 1 had features of autism (see 209850).
Giannandrea et al. (2010) reported a large family with X-linked mental retardation spanning 2 generations. There were 6 affected males, all with macrocephaly. One had obesity and 2 had features of autism.
The transmission pattern of mental retardation in the family reported by Russo et al. (2000) was consistent with X-linked recessive inheritance.
In a 4-generation Sardinian family, Russo et al. (2000) observed 8 males with nonspecific X-linked mental retardation and 6 carrier females. Two-point linkage analysis demonstrated linkage to markers in Xq28; maximum lod score = 2.71 at theta = 0.00. The authors excluded involvement of the GDI1 gene (300104), which maps to the same region and is mutated in other families with nonspecific mental retardation (XLID41; 300849).
In 2 unrelated families with XLID72, including the family reported by Russo et al. (2000), Giannandrea et al. (2010) identified different hemizygous loss-of-function mutations in the RAB39B gene (300774.0001-300774.0002) that segregated with the disorder.
Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H.-H., Tzschach, A., and 11 others. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am. J. Hum. Genet. 86: 185-195, 2010. [PubMed: 20159109] [Full Text: https://doi.org/10.1016/j.ajhg.2010.01.011]
Russo, S., Cogliati, F., Cavalleri, F., Cassitto, M. G., Giglioli, R., Toniolo, D., Casari, G., Larizza, L. Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family. Am. J. Med. Genet. 94: 376-382, 2000. [PubMed: 11050621] [Full Text: https://doi.org/10.1002/1096-8628(20001023)94:5<376::aid-ajmg6>3.0.co;2-a]
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