Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene encodes a transcription factor. Mutations cause autosomal recessive enlargement of the vestibular aqueduct.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Pierrou S et al. (1994) Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. 
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| 2. |
Larsson C et al. (1995) Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12).
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| 3. |
Yang T et al. (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
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| 4. |
Hulander M et al. (1998) The winged helix transcription factor Fkh10 is required for normal development of the inner ear.
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| 5. |
Hulander M et al. (2003) Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice.
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| 6. |
Blomqvist SR et al. (2004) Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1.
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| 7. |
Blomqvist SR et al. (2006) Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility.
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| 8. |
Montoro DT et al. (2018) A revised airway epithelial hierarchy includes CFTR-expressing ionocytes.
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| 9. |
Plasschaert LW et al. (2018) A single-cell atlas of the airway epithelium reveals the CFTR-rich pulmonary ionocyte.
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