Table 3 Clinical features of patients with the SLC26A7 mutations and with the SLC26A4 mutations (Pendred syndrome)
From: Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7
SLC26A7 | Pendred syndrome (SLC26A4) | ||||
|---|---|---|---|---|---|
Our study | Previous report | ||||
Patient 1 | Patient 2 | Elder sister (43.1) | Younger sister (43.2) | ||
Mutation | c.1498C > T | c.927_933delinsG | |||
Zygosity | Homozygous | Homozygous | |||
Amino acid change | p.Gln500Ter | p.Ile309_Glu311delinsMet | |||
Thyroid | |||||
Hypothyroidism* | Yes | Yes | Yes | Yes | Euthyroid in most patients |
Goitre | Yes | Yes | Yes | No | 50–83% of the patients |
Severity of hypothyroidism | Moderate | Severe | N.A. | N.A. | N.A. |
Age at diagnosis of hypothyroidism | 15 days | 5 years | 3 years | N.A. | |
High level of serum TG | Yes | Yes | N.A. | N.A. | Yes |
Other Feature | |||||
Renal tubular acidosis* | No | No | No | No | N.A. |
Deafness | No | No | N.A. | N.A. | Yes |
EVA | N.A. | N.A. | N.A. | N.A. | 80–100% of the patients |
Impairment of gastric acid secretion* | N.A. | N.A. | N.A. | N.A. | N.A. |
