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STAR syndrome
STAR syndrome is an extremely rare X-linked dominant syndrome that is caused by single FAM58A gene point mutations or deletions of FAM58A and its flanking genes.[3] STAR syndrome is distinguished by a variety of facial dysmorphisms and malformations outlined by its acronym, Syndactyly Telecanthus Anogenital malformations Renal malformations.[3] Signs and symptomsThe name STAR stands for the syndrome's primary signs and symptoms:[1] Syndactyly Telecanthus Anogenital malformations Renal malformations. Other bone abnormalities, hearing loss, epilepsy, retinal abnormalities, syringomyelia, tethered spinal cord, and several other birth defects have been documented in STAR syndrome.[4] Ocular signs include telecanthus and eyelid abnormalities, as well as peripheral anterior synechiae in the anterior segment. Retinal findings such as macular drusen and macular hypoplasia have also been identified.[5] CausesSTAR syndrome is caused by either point mutations or deletions of the FAM58A gene, which is located on chromosome Xq28. This gene encodes Cyclin M, a Cyclin-dependent kinase 10 (CDK10) binding partner. The Cyclin M/CDK10 interactions regulate the division of cells and development by suppressing ETS2-driven MAPK pathway activation. Cyclin M/CDK10 interaction has been demonstrated to be defective in STAR syndrome patients. The abnormalities of the FAM58A gene in STAR syndrome suggest that it is X-linked dominant. Since STAR syndrome has only been observed in female patients it is most likely lethal in males.[3] References
Information related to STAR syndrome |
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