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Díaz-Ordoñez, Lorena, Ramirez-Montaño, Diana, Candelo, Estephania, Cruz, Santiago, Pachajoa, Harry. (1398). Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report. سامانه مدیریت نشریات علمی, 44(3), 257-261. doi: 10.30476/ijms.2019.44982
Lorena Díaz-Ordoñez; Diana Ramirez-Montaño; Estephania Candelo; Santiago Cruz; Harry Pachajoa. "Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report". سامانه مدیریت نشریات علمی, 44, 3, 1398, 257-261. doi: 10.30476/ijms.2019.44982
Díaz-Ordoñez, Lorena, Ramirez-Montaño, Diana, Candelo, Estephania, Cruz, Santiago, Pachajoa, Harry. (1398). 'Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report', سامانه مدیریت نشریات علمی, 44(3), pp. 257-261. doi: 10.30476/ijms.2019.44982
Díaz-Ordoñez, Lorena, Ramirez-Montaño, Diana, Candelo, Estephania, Cruz, Santiago, Pachajoa, Harry. Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report. سامانه مدیریت نشریات علمی, 1398; 44(3): 257-261. doi: 10.30476/ijms.2019.44982

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report

Iranian Journal of Medical Sciences
مقاله 10، دوره 44، شماره 3، مرداد 2019، صفحه 257-261    اصل مقاله (910.48 K)
نوع مقاله: Case Report(s)
شناسه دیجیتال (DOI): 10.30476/ijms.2019.44982
نویسندگان
Lorena Díaz-Ordoñez1؛ Diana Ramirez-Montaño1؛ Estephania Candelo1؛ Santiago Cruz2؛ Harry Pachajoa* 3
1Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia
2Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia; and Department of Genetics, Fundación Valle del Lili, Cali, Colombia
3Department of Genetics, Fundación Valle del Lili, Cali, Colombia
چکیده
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech delay, sleep disturbances, and dysmorphic craniofacial features. The whole exome sequencing (WES) test revealed a novel de novo heterozygous frameshift mutation in AHDC1. The present case report describes the second case of mutations in AHDC1 in a Latin American patient. A literature review showed that the clinical features were similar in all reported patients. The WES test enabled the identification of the causality of this disorder characterised by high clinical and genetic heterogeneity.
کلیدواژه‌ها
Developmental disabilities؛ Whole exome sequencing؛ Frameshift mutations
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