title: Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
abstract: Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the brain. This syndrome has been associated with KIAA1279 gene mutations at 10q22.1. Here we report a 16 yr old male patient referred to Center for Comprehensive Genetic Services, Tehran, Iran in 2015 with cardinal features of GOSHS in addition to refractory seizures. Whole exome sequencing in the patient revealed a novel nonsense (stop gain) homozygous mutation in KIAA1279 gene (KIAA1279: NM_015634:exon6:c.C976T:p.Q326X). Considering the wide range of phenotypic variations in GOSHS, relying on phenotypic characteristics for discrimination of GOSH from similar syndromes may lead to misdiagnosis. Consequently, molecular diagnostic tools would help in accurate diagnosis of such overlapping phenotypes.
authors.affiliation: Department of Pediatrics, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Shadab
authors.initials: S
authors.lastname: Salehpour
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Feyzollah
authors.initials: F
authors.lastname: Hashemi-Gorji
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Ziba
authors.initials: Z
authors.lastname: Soltani
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
authors.forename: Soudeh
authors.initials: S
authors.lastname: Ghafouri-Fard
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Miryounesi
keywords: Goldberg-Shprintzen syndrome; KIAA1279; Mutation