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
Other namesSyndactyly with Renal and Anogenital Malformation
Diagram showing X-linked dominant inheritance scenarios for the mother being affected
SpecialtyGenetics
SymptomsSyndactyly, telecanthus, anogenital malformations, renal malformations, and short stature.[1]
Usual onsetBirth.[1]
Diagnostic methodClinical features and genetic testing.[2]
Differential diagnosisVATER syndrome.[2]
FrequencyFewer than 100 documented cases.[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 symptoms

The 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]

Causes

STAR 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

  1. "Syndactyly-telecanthus-anogenital and renal malformations syndrome — About the Disease". Genetic and Rare Diseases Information Center. January 8, 2021. Retrieved October 9, 2023.
  2. Zarate, Yuri A.; Farrell, Jessica M.; Alfaro, Maria P.; Elhassan, Nahed O. (April 6, 2015). "STAR syndrome is part of the differential diagnosis of females with anorectal malformations". American Journal of Medical Genetics Part A. Wiley. 167 (8): 1940–1943. doi:10.1002/ajmg.a.37078. ISSN 1552-4825.
  3. Bedeschi, Maria F.; Giangiobbe, Sara; Paganini, Leda; Tabano, Silvia; Silipigni, Rosamaria; Colombo, Lorenzo; Crippa, Beatrice L.; Lalatta, Faustina; Guerneri, Silvana; Miozzo, Monica (October 31, 2017). "STAR syndrome plus: The first description of a female patient with the lethal form". American Journal of Medical Genetics Part A. Wiley. 173 (12): 3226–3230. doi:10.1002/ajmg.a.38484. ISSN 1552-4825.
  4. "STAR syndrome — National Organization for Rare Disorders". National Organization for Rare Disorders. June 16, 2022. Retrieved October 9, 2023.
  5. Li, Alexa L.; Borooah, Shyamanga; Nudleman, Eric (2022). "Multimodal imaging of retinal findings in syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome". American Journal of Ophthalmology Case Reports. Elsevier BV. 25: 101284. doi:10.1016/j.ajoc.2022.101284. ISSN 2451-9936.

 

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.