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Table 2 Summary of phenotypic and genotypic characteristics of the present case and previously reported cases with HDR syndrome

From: Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature

  Present case Akie Nakamura et al. (2011)
[13]
Nasrollah Maleki et al. (2013)
[14]
Liu C, et al. (2015)
[15]
Gül Yesiltepe Mutlu et al. (2015)
[16]
Xue-Ying Chu et al. (2017)
[17]
Tetsuji Okawa et al. (2015)
[7]
  Proband Mother Patient 1 Patient 2 Patient 3 Patient 4 Patient 5      
Gender Male Female Female Female Female Female Male Male Male Male Female Female
Age at diagnosis 13 years 47 years 1 month 11 months 2 years 1 month 13 years 58 years 19 years 13 years 14 years 33 years
Parathyroid function at the time of diagnosis   
Hypoparathyroidism Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
Clinical features Tetany Asymptomatic Poor weight gain Seizures Lower limb pain Seizures Muscle cramps Seizures Tetany Tetany Seizures Seizures
Serum calcium (mmol/L) 1.6 1.85 1.2 1.1 unknown 1.5 1.4 1.325 1.86 1.675 1.62 1.3
Serum phosphate (mmol/L) 2.71 1.91 unknown 2.907 unknown 3.714 2.196 2.32 1.71 3.068 3.70 1.51
Intact PTH (pg/mL) 7.1 6.9 7–10 5–9 20 9 13 5 9.96 20 22 7
Sensorineural deafness Moderate Profound + + + + + Moderate to severe + + + +
Hearing level right/ left ears (dB)a 50/52 92/97 60/60 60/45 60/80–100 80/80 40–50/ 40–50 20–80/ 20–80 60–80/ 60–100 47/ 55
Age at diagnosis 13 years 47 years b 2.8 years 8 years 11 years 2 years 11 years 41 years
Renal anomaly Normal CKD Normal Normal Normal Renal dysplasia Normal CKD Small kidneys Small pelvic left kidney Normal Right renal dysplasia
Abnormality in the GATA3 gene Heterozygous whole gene deletion of GATA3 (min.19kbp) Heterozygous whole gene deletion of GATA3 (min.19kbp) Exon 6 c.1063delC p.L355X Exon 3 c.432insG p.K303X Exon 4 c.784A > G p.R262G Intron 5/exon 6 boundary c.1051-1G > T p.1351fsX18 Exon 5 c.942 T > A p.C318S Not identified Exon 2 c.529dupC p.Arg177profsX126 Exon 4 p.R276Q c.827G > A Exon 2 c.286delT p.W96GfsX99 Exon 4 p.R299Q
  1. aDegree of hearing loss: normal: < 25 dB; mild: 26–40 dB; moderate: 41–55 dB; moderately severe: 56–70 dB; and profound: > 90 dB; bhad undetected hearing loss since childhood; CKD chronic kidney disease, PTH parathyroid hormone