BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated with NPS. AIMS: To investigate the association of glaucoma with NPS in Australian families and to determine how common NPS is in Australia. METHODS: One family with NPS and glaucoma was identified from the Glaucoma Inheritance Study in Tasmania. A further 18 index cases of NPS were identified from the genetics database for southeastern Australia. Eight of these pedigrees were available for comprehensive glaucoma examination on available family members. DNA was sequenced for mutations in LMX1B. RESULTS: In total, 52 living cases of NPS were identified suggesting a minimum prevalence of at least 1 in 100 000. 32 subjects from eight NPS pedigrees (four familial and four sporadic cases) were examined. 14 subjects had NPS alone. 4 subjects had NPS and glaucoma or ocular hypertension. Five pedigrees with NPS had a reported family history of glaucoma, although some of these people with glaucoma did not have NPS. LMX1B mutations were identified in 5 of the 8 index cases-three sporadic and two familial. Two of the six (33%) participants over 40 years of age had developed glaucoma, showing increased risk of glaucoma in NPS. CONCLUSION: Patients with NPS should be examined regularly for glaucoma. However, because the families with NPS are ascertained primarily from young probands or probands who are isolated cases, the exact level of risk is unclear.
BACKGROUND:Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated with NPS. AIMS: To investigate the association of glaucoma with NPS in Australian families and to determine how common NPS is in Australia. METHODS: One family with NPS and glaucoma was identified from the Glaucoma Inheritance Study in Tasmania. A further 18 index cases of NPS were identified from the genetics database for southeastern Australia. Eight of these pedigrees were available for comprehensive glaucoma examination on available family members. DNA was sequenced for mutations in LMX1B. RESULTS: In total, 52 living cases of NPS were identified suggesting a minimum prevalence of at least 1 in 100 000. 32 subjects from eight NPS pedigrees (four familial and four sporadic cases) were examined. 14 subjects had NPS alone. 4 subjects had NPS and glaucoma or ocular hypertension. Five pedigrees with NPS had a reported family history of glaucoma, although some of these people with glaucoma did not have NPS. LMX1B mutations were identified in 5 of the 8 index cases-three sporadic and two familial. Two of the six (33%) participants over 40 years of age had developed glaucoma, showing increased risk of glaucoma in NPS. CONCLUSION:Patients with NPS should be examined regularly for glaucoma. However, because the families with NPS are ascertained primarily from young probands or probands who are isolated cases, the exact level of risk is unclear.
Authors: Ernie M H F Bongers; Frans T Huysmans; Elena Levtchenko; Jacky W de Rooy; Johan G Blickman; Ronald J C Admiraal; Patrick L M Huygen; Johannes R M Cruysberg; Pauline A M P Toolens; Judith B Prins; Paul F M Krabbe; George F Borm; Jeroen Schoots; Hans van Bokhoven; Angela M F van Remortele; Lies H Hoefsloot; Albert van Kampen; Nine V A M Knoers Journal: Eur J Hum Genet Date: 2005-08 Impact factor: 4.246
Authors: Jennifer A Dunston; Jeanette D Hamlington; Jayshree Zaveri; Elizabeth Sweeney; Julie Sibbring; Catherine Tran; Maria Malbroux; John P O'Neill; Roger Mountford; Iain McIntosh Journal: Genomics Date: 2004-09 Impact factor: 5.736
Authors: R Morello; G Zhou; S D Dreyer; S J Harvey; Y Ninomiya; P S Thorner; J H Miner; W Cole; A Winterpacht; B Zabel; K C Oberg; B Lee Journal: Nat Genet Date: 2001-02 Impact factor: 38.330
Authors: Monica Marini; Ernie M H F Bongers; Roberto Cusano; Marco Di Duca; Marco Seri; Nine V A M Knoers; Roberto Ravazzolo Journal: Int J Mol Med Date: 2003-07 Impact factor: 4.101
Authors: O J Lehmann; N D Ebenezer; T Jordan; M Fox; L Ocaka; A Payne; B P Leroy; B J Clark; R A Hitchings; S Povey; P T Khaw; S S Bhattacharya Journal: Am J Hum Genet Date: 2000-09-27 Impact factor: 11.043
Authors: Ian A Swinburne; Kishore R Mosaliganti; Srigokul Upadhyayula; Tsung-Li Liu; David G C Hildebrand; Tony Y-C Tsai; Anzhi Chen; Ebaa Al-Obeidi; Anna K Fass; Samir Malhotra; Florian Engert; Jeff W Lichtman; Tomas Kirchhausen; Eric Betzig; Sean G Megason Journal: Elife Date: 2018-06-19 Impact factor: 8.140