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. Author manuscript; available in PMC: 2011 Dec 1.
Published in final edited form as: Clin Genet. 2010 Dec;78(6):601–603. doi: 10.1111/j.1399-0004.2010.01500.x

Table 1.

List of all mutations in SANS

List of all known mutations identified in SANS.

Country Exon Mutationa Consequence Hearing Loss Reference
Germany 1 c.143 T>C* p.L48P Profound 2
2 c.186_187delCA Frameshift
Tunisia 2 c.393insG Frameshift Profound 2
Jordan 2 c.832_851del20** Frameshift Profound 2
U.S.A 1 c.113 G>A p.W38X Profound 5
Turkey 2 c.1373 A>T p.D458V Variable (moderate to profound) 4
Pakistan 1 c.163_164+13del15 Frameshift Moderate to severe This report
a

Numbers with respect to the open reading frame of SANS, corresponding to cDNA sequence from GenBank (AK091243) with the first nucleotide in the initiation codon designated as “+1”.

*

Originally reported as c.142 C>T.

**

Originally reported as 829_848del20.