- E-ISSN2671-6771
Searching for the Missing Kallmann Syndrome Gene at 9q31.3
Searching for the Missing Kallmann Syndrome Gene at 9q31.3
LeeSang Hoon(Sang Hoon Lee) (Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, the State University of New Jersey, NJ 08854, USA)
LaymanLawrence C.(Lawrence C. Layman) (Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA 30912, USA. Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA 30912, USA)
JangMi-Hyeon(Mi-Hyeon Jang) (Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, the State University of New Jersey, NJ 08854, USA)
초록
The disease gene for delayed puberty is hypothesized to reside within a 3.7 Mb genomic region on chromosome 9, spanning 9q31.2 to 9q31.3, which contains 20 genes. This region aligns with 9q31.3, where the Kallmann syndrome gene is suspected to be located in a patient with a de novo balanced translocation, t(7;9)(p14.1;q31.3). After analyzing the expression patterns and reported genetic variants of the 20 candidate genes, we propose ACTL7A and ACTL7B as strong candidate genes for Kallmann syndrome. Mutation screening of these genes in Kallmann syndrome patients will be essential to confirm their pathological roles in delayed puberty.
- keywords
- Kallmann syndrome, 9q31.3, Balanced translocation, ACTL7A, ACTL7B, Delayed puberty, t(7, 9)(p14.1, q31.3)
Abstract
The disease gene for delayed puberty is hypothesized to reside within a 3.7 Mb genomic region on chromosome 9, spanning 9q31.2 to 9q31.3, which contains 20 genes. This region aligns with 9q31.3, where the Kallmann syndrome gene is suspected to be located in a patient with a de novo balanced translocation, t(7;9)(p14.1;q31.3). After analyzing the expression patterns and reported genetic variants of the 20 candidate genes, we propose ACTL7A and ACTL7B as strong candidate genes for Kallmann syndrome. Mutation screening of these genes in Kallmann syndrome patients will be essential to confirm their pathological roles in delayed puberty.
- keywords
- Kallmann syndrome, 9q31.3, Balanced translocation, ACTL7A, ACTL7B, Delayed puberty, t(7, 9)(p14.1, q31.3)
- 투고일Submission Date
- 2024-08-30
- 수정일Revised Date
- 2024-10-01
- 게재확정일Accepted Date
- 2024-10-07
- 다운로드 수
- 조회수
- 0KCI 피인용수
- 0WOS 피인용수