A spontaneous mutation inserted two CA repeats in intron 53 that results in decreased transcript stability. Additional mutations include: insertion of two GA repeats within intron 18, insertion of two T residues within intron 57 and a putative site within intron 52 of an TA repeat region that was intractable to sequencing. RT-PCR confirmed the absence of transcript expression in the sublingual gland.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count