STGD in 48 patients (55%) was explained by recessive ABCA4 mutations (supplemental table S2). Only 22 patients could be solved using previously known STGD causing mutations. However, we identified 35 novel mutations in ABCA4 contributing to the diagnosis of 25 STGD patients. This contained 10 novel mutations leading to amino acid substitutions already known to cause disease and mutations known to cause diseases other than STGD. In addition, we identified 13 novel nonsense mutations. The remaining 12 novel mutations are well justified, and novel mutations were either completely absent or extremely rare in controls.
Case#: Patient #126, Chinese
DiseaseAssertion: Stargardt
FamilyInfo: n/a
CasePresentingHPOs: "Clinical diagnosis of STGD was made when the patient, usually a child, developed central visual acuity loss with an atrophic maculopathy with or without flecks." No individual details
CaseHPOFreeText: n/a
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
GenotypingMethod: shotgun sequencing; Sanger sequencing; CNV analysis using CGH microarray
PreviouslyPublished: n/a
Variant: c.6119G>A p.(R2040Q); c.5776C>T p.(Q1926X)
CAID: CA232815
SupplementalData: info found in table S2