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