ASSOCIATION OF A NOVEL NONSENSE MUTATION IN KIAA1279 WITH GOLDBERG-SHPRINTZEN SYNDROME

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SALEHPOUR SHADAB; HASHEMI GORJI FEYZOLLAH; SOLTANI ZIBA; GHAFOURI FARD SOUDEH; MIRYOUNESI MOHAMMAD

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Journal Paper

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Journal: Iranian Journal of Child Neurology Year:2017 | Volume:11 | Issue:1 Page(s): 70-74

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Title

ASSOCIATION OF A NOVEL NONSENSE MUTATION IN KIAA1279 WITH GOLDBERG-SHPRINTZEN SYNDROME

Author(s)

Keywords

GOLDBERG-SHPRINTZEN SYNDROME

KIAA1279

MUTATION

Abstract

GOLDBERG-SHPRINTZEN SYNDROME (OMIM 609460) (GOSHS) is an autosomalrecessive multiple congenital anomaly syndrome distinguished by intellectualdisability, microcephaly, and dysmorphic facial characteristics. Most affectedindividuals also have Hirschsprung disease and/or gyral abnormalities of thebrain. This syndrome has been associated with KIAA1279 gene MUTATIONsat 10q22.1. Here we report a 16 yr old male patient referred to Center forComprehensive Genetic Services, Tehran, Iran in 2015 with cardinal featuresof GOSHS in addition to refractory seizures. Whole exome sequencingin the patient revealed a novel nonsense (stop gain) homozygous MUTATIONin KIAA1279 gene (KIAA1279: NM_015634: exon6: c.C976T: p.Q326X).Considering the wide range of phenotypic variations in GOSHS, relying onphenotypic characteristics for discrimination of GOSH from similar syndromesmay lead to misdiagnosis. Consequently, molecular diagnostic tools wouldhelp in accurate diagnosis of such overlapping phenotypes.

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APA: Copy

SALEHPOUR, SHADAB, HASHEMI GORJI, FEYZOLLAH, SOLTANI, ZIBA, GHAFOURI FARD, SOUDEH, & MIRYOUNESI, MOHAMMAD. (2017). ASSOCIATION OF A NOVEL NONSENSE MUTATION IN KIAA1279 WITH GOLDBERG-SHPRINTZEN SYNDROME. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 11(1), 70-74. SID. https://sid.ir/paper/303515/en

Vancouver: Copy

SALEHPOUR SHADAB, HASHEMI GORJI FEYZOLLAH, SOLTANI ZIBA, GHAFOURI FARD SOUDEH, MIRYOUNESI MOHAMMAD. ASSOCIATION OF A NOVEL NONSENSE MUTATION IN KIAA1279 WITH GOLDBERG-SHPRINTZEN SYNDROME. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2017;11(1):70-74. Available from: https://sid.ir/paper/303515/en

IEEE: Copy

SHADAB SALEHPOUR, FEYZOLLAH HASHEMI GORJI, ZIBA SOLTANI, SOUDEH GHAFOURI FARD, and MOHAMMAD MIRYOUNESI, “ASSOCIATION OF A NOVEL NONSENSE MUTATION IN KIAA1279 WITH GOLDBERG-SHPRINTZEN SYNDROME,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 11, no. 1, pp. 70–74, 2017, [Online]. Available: https://sid.ir/paper/303515/en

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