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Clinical and genetic analysis of a newborn with hypoparathyroidism, sensorineural hearing loss, and renal dysplasia syndrome / 中华医学遗传学杂志
Article in Zh | WPRIM | ID: wpr-928394
Responsible library: WPRO
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.
Subject(s)
Full text: 1 Index: WPRIM Main subject: Syndrome / Urogenital Abnormalities / DNA Copy Number Variations / Hearing Loss, Sensorineural / Hypoparathyroidism / Kidney Limits: Humans / Male / Newborn Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2022 Type: Article
Full text: 1 Index: WPRIM Main subject: Syndrome / Urogenital Abnormalities / DNA Copy Number Variations / Hearing Loss, Sensorineural / Hypoparathyroidism / Kidney Limits: Humans / Male / Newborn Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2022 Type: Article