PURPOSE: To screen mutations in the norrin (NDP) gene in 44 unrelated Chinese patients with familial exudative vitreoretinopathy (FEVR, 38 cases) or Norrie disease (6 cases) and to describe the associated phenotypes. METHODS: Of the 44 patients, mutation in FZD4, LRP5, and TSPAN12 was excluded in 38 patients with FEVR in previous study. Sanger sequencing was used to analyze the 2 coding exons and their adjacent regions of NDP in the 44 patients. Clinical data were presented for patients with mutation. RESULTS: NDP variants in 5 of the 6 patients with Norrie disease were identified, including a novel missense mutation (c.164G>A, p.Cys55Phe) in one patient, two known missense mutations (c.122G>A, p.Arg41Lys; c.220C>T, p.Arg74Cys) in two patients, and a gross deletion encompassing the two coding exons in two patients. Of the 5 patients, 3 had a family history and 2 were singleton cases. No mutation in NDP was detected in the 38 patients with FEVR. CONCLUSIONS: NDP mutations are common cause of Norrie disease but might be rare cause for FEVR in Chinese.
PURPOSE: To screen mutations in the norrin (NDP) gene in 44 unrelated Chinese patients with familial exudative vitreoretinopathy (FEVR, 38 cases) or Norrie disease (6 cases) and to describe the associated phenotypes. METHODS: Of the 44 patients, mutation in FZD4, LRP5, and TSPAN12 was excluded in 38 patients with FEVR in previous study. Sanger sequencing was used to analyze the 2 coding exons and their adjacent regions of NDP in the 44 patients. Clinical data were presented for patients with mutation. RESULTS:NDP variants in 5 of the 6 patients with Norrie disease were identified, including a novel missense mutation (c.164G>A, p.Cys55Phe) in one patient, two known missense mutations (c.122G>A, p.Arg41Lys; c.220C>T, p.Arg74Cys) in two patients, and a gross deletion encompassing the two coding exons in two patients. Of the 5 patients, 3 had a family history and 2 were singleton cases. No mutation in NDP was detected in the 38 patients with FEVR. CONCLUSIONS:NDP mutations are common cause of Norrie disease but might be rare cause for FEVR in Chinese.
Authors: Muhammad Ansar; Hyunglok Chung; Yar M Waryah; Periklis Makrythanasis; Emilie Falconnet; Ali Raza Rao; Michel Guipponi; Ashok K Narsani; Ralph Fingerhut; Federico A Santoni; Emmanuelle Ranza; Ali M Waryah; Hugo J Bellen; Stylianos E Antonarakis Journal: Hum Mol Genet Date: 2018-08-01 Impact factor: 6.150
Authors: Siti Zulaikha Nashwa Mohd Khair; Abdul Salim Ismail; Zunaina Embong; Abdul Aziz Mohamed Yusoff Journal: J Ophthalmic Vis Res Date: 2019 Apr-Jun