Familial Idiopathic Scoliosis in a Large Utah/Idaho Family

· (a – EmerGen, Inc.)

Using the unique genealogy resources available in Utah, we found that four patients who underwent surgical correction of scoliosis at our center had common ancestors in New England in the 1600’s. We obtained extended family histories from these four patients and found 30 additional relatives with scoliosis in the Utah/Idaho region.

Of the 34 cases of scoliosis found thus far in this single family, 24 are female and 10 are male. Though only one of the index patients with surgically treated scoliosis reports having a parent with scoliosis, four affected individuals (for whom complete information is known about their offspring) report seven of 20 children (35%) with a diagnosis of scoliosis (five of 14 daughters and two of six sons).

Although this 12 generation family is not highly inbred, there are at least two instances of consanguineous marriages. Additionally, eight individuals in this family married a person from one of the other scoliosis families identified in Utah.

This family, the largest reported to date, is likely to carry one or more major gene mutations related to scoliosis. There may be thousands of additional affected individuals in the greater than 22,000 descendents from the common ancestors in this family. Our ongoing clinical and molecular genetic investigations of this pedigree will provide an unprecedented opportunity to understand the biology and etiologies of scoliosis.

· If noted, the author indicates something of value received. The codes are identified as: a-research or institutional support; b-miscellaneous funding; c-royalties; d-stock options.