DO: 0080342;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xp22.2 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | X-linked recessive | 3 | OFD1 | 300170 |
A number sign (#) is used with this entry because of evidence that Simpson-Golabi-Behmel syndrome type 2 (SGBS2) is caused by mutation in the CXORF5 gene (OFD1; 300170) on chromosome Xp22. One such family has been reported.
Simpson-Golabi-Behmel syndrome type 2 (SGBS2) is an X-linked recessive disorder in which affected males have severely impaired intellectual development, ciliary dyskinesia, and macrocephaly (summary by Budny et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of Simpson-Golabi-Behmel syndrome, see 312870.
Budny et al. (2006) reported a Polish family in which 9 males had developmental delay, macrocephaly, and respiratory problems inherited in an X-linked recessive pattern. All affected males except the proband died at an early age. The proband was an 11-year-old boy with severe mental retardation, dysmorphic facies, high-arched palate, low-set ears, broad thumbs, short fingers, and obesity. He had repeated respiratory infections, and functional studies of respiratory cilia showed a disorganized ciliary beating pattern with lack of coordination.
The transmission pattern of SGBS2 in the family reported by Budny et al. (2006) was consistent with X-linked recessive inheritance.
In 2 affected members and all female obligate carriers of an affected Polish family, Budny et al. (2006) identified a 4-bp duplication in the CXORF5 gene (300170.0007). Female carriers were unaffected.
Budny, B., Chen, W., Omran, H., Fliegauf, M., Tzschach, A., Wisniewska, M., Jensen, L. R., Raynaud, M., Shoichet, S. A., Badura, M., Lenzner, S., Latos-Bielenska, A., Ropers, H.-H. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum. Genet. 120: 171-178, 2006. [PubMed: 16783569] [Full Text: https://doi.org/10.1007/s00439-006-0210-5]