Nadav Shoshany1,2, Isaac Avni1,2,3, Yair Morad2,3, Chen Weiner1, Adi Einan-Lifshitz2,3, Eran Pras1,2,3. 1. a The Matlow's Ophthalmo-genetics Laboratory , Assaf-Harofeh Medical Center , Zerifin , Israel. 2. b Department of Ophthalmology , Assaf-Harofeh Medical Center , Zerifin , Israel. 3. c Sackler Faculty of Medicine , Tel Aviv University , Tel Aviv , Israel.
Abstract
PURPOSE: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. METHODS: Seven affected members were recruited. Medical history, clinical findings, and biometric measurements were recorded. Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons. RESULTS: An unusual anterior Y-sutural cataract was documented in the affected male proband. Other clinical features among examined patients included microcorneas, long and narrow faces, and current or previous dental anomalies. A nonsense mutation was identified in each family, including a previously described 742 C>T, p.(Arg248*) mutation in Family A, and a novel mutation 2915 C>A, p.(Ser972*) in Family B. CONCLUSIONS: Our study expands the repertoire of NHS mutations and the related phenotype, including newly described anterior Y-sutural cataract and dental findings.
PURPOSE: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. METHODS: Seven affected members were recruited. Medical history, clinical findings, and biometric measurements were recorded. Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons. RESULTS: An unusual anterior Y-sutural cataract was documented in the affected male proband. Other clinical features among examined patients included microcorneas, long and narrow faces, and current or previous dental anomalies. A nonsense mutation was identified in each family, including a previously described 742 C>T, p.(Arg248*) mutation in Family A, and a novel mutation 2915 C>A, p.(Ser972*) in Family B. CONCLUSIONS: Our study expands the repertoire of NHS mutations and the related phenotype, including newly described anterior Y-sutural cataract and dental findings.
Authors: Mansour A Alghamdi; Hilary J Wallace; Phillip E Melton; Eric K Moses; Andrew Stevenson; Laith N Al-Eitan; Suzanne Rea; Janine M Duke; Patricia L Danielsen; Cecilia M Prêle; Fiona M Wood; Mark W Fear Journal: Biomedicines Date: 2020-06-28
Authors: Alejandra Damián; Raluca Oancea Ionescu; Marta Rodríguez de Alba; Alejandra Tamayo; María José Trujillo-Tiebas; María Carmen Cotarelo-Pérez; Olga Pérez Rodríguez; Cristina Villaverde; Lorena de la Fuente; Raquel Romero; Gonzalo Núñez-Moreno; Pablo Mínguez; Carmen Ayuso; Marta Cortón Journal: Int J Mol Sci Date: 2021-11-24 Impact factor: 5.923