HDR Syndrome is a rare disease that is inherited autosomal dominantly characterized by a triad of hypoparathyroidism, sensorineural hearing impairment and renal dysplasia. This syndrome is caused by haploinsufficiency of GATA3 gene. We report a family in which two sisters and the father diagnosed with HDR Syndrome because of having hypoparathyroidism and sensorineural deafness. One of these patients had an arachnoid cyst in the left temporal region and cerebellar tonsillar ectopy. The father had horseshoe kidney. A heterozygous GATA3 gene variant (NM_001002295.1 c.1099C>T (p.R367X)) were showed in the sisters. By presenting this case, the clinical and genetic features of HDR Syndrome are reviewed.
Birincil Dil | İngilizce |
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Konular | Sağlık Kurumları Yönetimi |
Bölüm | OLGU SUNUMLARI / CASE REPORTS |
Yazarlar | |
Yayımlanma Tarihi | 18 Mayıs 2021 |
Yayımlandığı Sayı | Yıl 2021 Cilt: 43 Sayı: 4 |