Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis

Table 1

Clinical and biochemical features of normal and affected members of studied family.

Features	Reference ranges	Normal members		Affected members from the family with hearing loss
		V : 3	V : 5	V : 1	VI : 3	VI : 5
Age (y)		30	35	45	12	10
Other symptoms of BSIV		no	no	No	No	No
S^d⋅Na (mmol/L)	136–148	141	140	135	137	134
S⋅K (mmol/L)	3.6–5.0	3.9	4.6	3.4	3.5	3.5
S⋅Cl (mmol/L)	104–114	105	107	97	102	101
S⋅Mg (mg/dl)	1.9–2.5	2.3	2.2	2.0	1.9	2.1
S⋅HCO3 (mmol/L)	17.5–27.5	30.0	27.5	30.0	30.2	31.0
S⋅Ca (mg/dl)	8.6–10.5	8.7	9.5	9.2	9.8	10.0
S⋅Creatinine (mg/dL)	0.85–1.35	0.7	0.8	0.6	0.5	0.4
P^e Renin (ng/ml/hr)	0.15–2.33	0.31	0.6	2.13	2.03	2.53
S⋅Aldosterone (ng/dL)	1–6;f 4–31	>1.7^f	13.0	10.3	11.9	6.3
S⋅Osmolality (mosm/kg)	275–295	293	289	281	290	287
U^g Na (mmol/L)	30–150	17.5	154.6	39.1	16.9	13.3
U⋅K (mmol/L)	20–67	3.4	91.31	12.13	8.43	4.12
U⋅Ca (mg/dL)		6.0	16.0	15.3	11.3	13.0
U⋅Mg (mg/dL)		3.6	14.4	3.1	2.4	1.12
U⋅Cl (mmol/L)	46–168	16.3	174.3	46.56	19.2	10.5
Uosmolality (mosm/kg)	50–1400	74	903	179	105	56
NephrocacinosisS		Absent	Absent	Absent	Absent	Absent