Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants

Table 1 Genotype and phenotype of patients without (group I) and with (group II) EVA carrying variations in the SLC26A4 sequence.^a

			Genotype
Group	Patient ID	Onset of hearing loss^b	Nucleotide change		Amino acid change		Phenotype
Group	Patient ID	Onset of hearing loss^b	Allele 1	Allele 2	Allele 1	Allele 2	EVA	Deafness	Goiter
I	C15	Undetermined	c.412G>T	WT	p.V138F	WT	No	Progressive; profound at 53 years of age	No
	C26^c	3	*c.845G>A*	WT	*P.C282Y*	WT	No	Profound	No
	C01	2	c.1826T>G	WT	p.V609G	WT	No	Profound	No
	C04	40	c.1826T>G	WT	p.V609G	WT	No	Profound	No
	C09	Prelingual	c.1826T>G	WT	p.V609G	WT	No	Profound	No
II	21	1 month	c.425C>T	c.279deIT	p.P142L	p.S93Rfs3*	Bilateral	Profound	No
	16	Prelingual	c.445G>A	WT	p.G149R	WT	Unilateral	Profound	No
	18	5	c.578C>T	WT	p.T193I	WT	Bilateral	Profound	No
	22	Prelingual	c.1226G>A	c.1226G>A	p.R409H	p.R409H	Bilateral	Profound	No
	02	Prelingual	c.1229C>T	c.1707+5G>A	p.T410M	SS	Bilateral	Profound	No
	06	Prelingual	c.1238A>G	c.412G>T	p.Q413R	p.V138F	Bilateral	Profound	No
	23	Prelingual	c.1334T>G	c.1001+1G>A	p.L445W	SS	Bilateral	Profound	Yes
	L1^c	1	c.1826T>G	WT	p.V609G	WT	Bilateral	Profound	No
	15	5	c.2326C>T	WT	p.R776C	WT	Bilateral	Profound	No

^aThe newly identified pendrin sequence variant is indicated in bold. Light gray cells denote the pendrin variants characterized in the present study; dark gray cells indicate pendrin variants for which the functional test described here could not be applied. SS, splicing site variant;*, stop codon.
^bAge of onset of hearing loss in years, except when otherwise specified.
^cMonoallelic mutation (c.35delG) in the connexin GJB2 gene was detected in the same patient.

ISSN: 1528-3658