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Identification of ROBO1/2 and SCEL as candidate genes in Kallmann syndrome with emerging bioinformatic analysis.
Zhu, Zuobin; Han, Xiaoxiao; Li, Ying; Han, Conghui; Deng, Mengqiong; Zhang, Yuhao; Shen, Qing; Cao, Yijuan; Li, Zhenbei; Wang, Xitao; Gu, Juan; Liu, Xiaoyan; Yang, Yaru; Zhang, Qiang; Hu, Fangfang.
Afiliación
  • Zhu Z; Department of Genetics, Research Facility Center for Morphology, Xuzhou Medical University, Xuzhou, China.
  • Han X; Center of Reproductive Medicine, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.
  • Li Y; Medical Technology College, Xuzhou Medical University, Xuzhou, China.
  • Han C; Department of Urology, Xuzhou Central Hospital, Xuzhou, China.
  • Deng M; Clinical College of Xuzhou Medical University, Xuzhou, China.
  • Zhang Y; School of Anesthesiology of Xuzhou Medical University, Xuzhou, China.
  • Shen Q; Clinical College of Xuzhou Medical University, Xuzhou, China.
  • Cao Y; Clinical College of Xuzhou Medical University, Xuzhou, China.
  • Li Z; Center of Reproductive Medicine, Xuzhou Central Hospital, Xuzhou, China.
  • Wang X; Clinical College of Xuzhou Medical University, Xuzhou, China.
  • Gu J; Center of Reproductive Medicine, Xuzhou Central Hospital, Xuzhou, China.
  • Liu X; Department of Urology, Xuzhou Central Hospital, Xuzhou, China.
  • Yang Y; Clinical College of Xuzhou Medical University, Xuzhou, China.
  • Zhang Q; Center of Reproductive Medicine, Xuzhou Central Hospital, Xuzhou, China.
  • Hu F; Clinical College of Xuzhou Medical University, Xuzhou, China.
Endocrine ; 67(1): 224-232, 2020 01.
Article en En | MEDLINE | ID: mdl-31325086
Kallmann syndrome (KS) is a congenital hypogonadotropic hypogonadism that coincides with anosmia or hyposmia. Although this rare genetic disease has a very low incidence, it harbors a complicated genetic heterogeneity, which indicates X-linked, autosomal, and oligogenic inheritance of puberty, sexuality, reproductivity, and olfactory defects. There has been limited elucidation of molecular etiologies completed to date. Here, a chromosome reciprocal translocation (46, XX, t (3; 13) (p13; q22)) was identified in a 27-year-old Chinese female diagnosed with KS. Genome sequencing found an intronic breakpoint of SCEL in chromosome 13 and an intergenic breakpoint between ROBO1 and ROBO2 in chromosome 3. This translocation resulted in the reduced expression levels of these genes. An array-CGH test captured no abnormal genomic copy numbers of clinical significance. The basic features of all known KS-related genes were also reviewed and analyzed for their roles in KS onset with bioinformatic methods. Signal pathway and gene enrichment analysis of KS-related genes suggested that these genes have integrated functions in neuronal migration and differentiation. An interesting chromosome locational pattern of KS-related genes was also discovered. This study provided constructive clues for further investigations into the molecular etiology of KS.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Kallmann / Hipogonadismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Endocrine Asunto de la revista: ENDOCRINOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Kallmann / Hipogonadismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Endocrine Asunto de la revista: ENDOCRINOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos