Clinical and genetic analysis of a newborn with hypoparathyroidism, sensorineural hearing loss, and renal dysplasia syndrome.
10.3760/cma.j.cn511374-20201204-00846
- VernacularTitle:一例新生儿甲状旁腺功能减低-感音神经性耳聋-肾发育不良综合征患儿的临床及遗传学分析
- Author:
Qiaoyan SHAO
1
;
Peilin WU
;
Biyun LIN
;
Senjing CHEN
;
Jian LIU
;
Suqing CHEN
Author Information
1. Department of Neonatology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 35005, China. sqch0728@163.com.
- Publication Type:Review
- MeSH:
DNA Copy Number Variations;
Hearing Loss, Sensorineural/genetics*;
Humans;
Hypoparathyroidism/genetics*;
Infant, Newborn;
Kidney/abnormalities*;
Male;
Syndrome;
Urogenital Abnormalities/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(2):222-226
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome.
METHODS:The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out.
RESULTS:The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved.
CONCLUSION:The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.
