Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient

Autor:	Nishath Hamza, Musallam Al-Araimi, Aliya Al-Hosni, Ashwaq Al Maimani
Rok vydání:	2020
Předmět:	Pediatrics medicine.medical_specialty business.industry Pediatrics Perinatology and Child Health Marriage Rate Medicine business Genetic diagnosis Genetics (clinical)
Zdroj:	J Pediatr Genet
ISSN:	2146-460X 2146-4596
DOI:	10.1055/s-0040-1715113
Popis:	Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with SOS for the first time. Oman and other Middle East countries have a high consanguine marriage rate. Our case report will increase knowledge of SOS syndrome to be able to provide genetic diagnosis and counseling for other family members and families as well as prenatal diagnostics for the future pregnancies.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9931ce5600a6581e13f13f140be53d01 https://doi.org/10.1055/s-0040-1715113 Zobrazit plný text záznamu