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SIDDT in a consanguineous Old Order Amish pedigree. (A) TSPYL 457_458insG mutation status is indicated for available pedigree members (m denotes 457_458insG, whereas + represents wild-type sequence). (B) Sequencing of TSPYL reveals a homozygous single base-pair insertion (457_458insG) in SIDDT syndrome patients. (i) TSPYL sequence from a normal control. (ii) 457_458insG heterozygote. (iii) 457_458insG homozygote.
