Gene: [07q31/PDS] pendrin (86kD); Pendred syndrome (goitre and sensorineural hearing loss); thyroid hormonogenesis, genetic defect in, IIB; deafness, autosomal recessive 4 (MIM:600791); [DFNB4 ]
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COM |
Coucke-1997 mapped PDS to Chr 7q31 between markers D7S501 and D7S692 in 1.7cM region." |
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HET |
See GEM:07q3/DFNB13; GEM:07q31/DFNB17. |
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REF |
LIN,LOC "Baldwin CT &: Hum Mol Genet, 4, 1637-1642, 1995 LIN,LOC "Coucke P &: Genomics, 40, N1, 48-54, 1997 FUN "Coyle B &: Hum Mol Genet, 7, N7, 1105-1112, 1998 LIN,LOC "Coyle B &: Nature Genet, 12, N4, 421-423, 1996 CLO,SEQ,MUT "Everett LA &: Nature Genet, 17, N4, 411-422, 1997 LIN,LOC "Gausden E &: J Med Genet, 34, 126-129, 1997 FUN "Gausden E &: Clin Endocrinol, 44, N4, 441-446, 1996 MUT "Li XC &: Nature Genet, 18, N3, 215-217, 1998 HIS "Pendred V: Lancet, 2, 532, 1896 LIN,LOC "Sheffield VC &: Nature Genet, 12, N4, 424-426, 1996 LOC,CYG,PAT,ABR "van Wouwe JP &: Am J Med Genet, 24, 211-217, 1986 |
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KEY |
horm, neu |
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CLA |
coding, basic |
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LOC |
07 q31 |
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MIM |
MIM: 274600 |
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SYN |
DFNB4 |
