Analysis of a patient with Kallmann syndrome and a 45,X/46,XY karyotype.
10.3760/cma.j.cn511374-20201105-00779
- VernacularTitle:一例卡尔曼综合征并45，X/46，XY嵌合体患者的遗传学分析
- Author:
Fuhui MA
1
;
Xinling WANG
;
Wusiman REZIWANGULI
;
Yuan CHEN
;
Yanying GUO
Author Information
1. Department of Endocrinology, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, Xinjiang 830001, China. guozeyang@126.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Genetic Testing;
Hypogonadism/genetics*;
Kallmann Syndrome/genetics*;
Karyotype;
Mutation;
Exome Sequencing;
Chromosomes, Human, X/genetics*;
Chromosomes, Human, Y/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(11):1275-1278
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the etiology of a patient with Kallmann syndrome (congenital hypogonadism and anosmia) and a 45,X/46,XY karyotype.
METHODS:Peripheral venous blood samples were collected from the proband and his parents and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.
RESULTS:The proband was found to harbor compound heterozygous variants of the PROKR2 gene, namely c.533G>C (p.W178S) and c.308C>T (p.A103V), which were inherited from his father and mother, respectively. The two variants were respectively predicted to be likely pathogenic and variant of unknown significance, respectively.
CONCLUSION:The reduced chromosomal mosaicism might have caused no particular clinical manifestations in this patient. For patients with features of Kallmann syndrome, genetic testing is conducive to early diagnosis and can provide a basis for genetic counseling and clinical treatment.
