Two novel CHN1 mutations in 2 families with Duane retraction syndrome
WM Chan, N Miyake, L Zhu-Tam… - Archives of …, 2011 - jamanetwork.com
Objective To determine the genetic cause of Duane retraction syndrome (DRS) in 2 families
segregating DRS as a dominant trait. Methods Members of 2 unrelated pedigrees were
enrolled in a genetic study. Linkage analysis was performed on theCHN1locus. Probands
and family members were screened forCHN1mutations. Results The 6 affected individuals in
the 2 pedigrees have DRS. Both pedigrees are consistent with linkage to the locus.
Sequence analysis revealed 2 novel heterozygous missenseCHN1mutations, c. 422C> T …
segregating DRS as a dominant trait. Methods Members of 2 unrelated pedigrees were
enrolled in a genetic study. Linkage analysis was performed on theCHN1locus. Probands
and family members were screened forCHN1mutations. Results The 6 affected individuals in
the 2 pedigrees have DRS. Both pedigrees are consistent with linkage to the locus.
Sequence analysis revealed 2 novel heterozygous missenseCHN1mutations, c. 422C> T …