TY - JOUR
T1 - NHS Gene Mutations in Ashkenazi Jewish Families with Nance–Horan Syndrome
AU - Shoshany, Nadav
AU - Avni, Isaac
AU - Morad, Yair
AU - Weiner, Chen
AU - Einan-Lifshitz, Adi
AU - Pras, Eran
N1 - Publisher Copyright:
© 2017 Taylor & Francis Group, LLC.
PY - 2017/9/2
Y1 - 2017/9/2
N2 - 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.
AB - 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.
KW - Cataract
KW - NHS
KW - Nance–Horan
KW - X-linked
KW - infantile
UR - http://www.scopus.com/inward/record.url?scp=85019756424&partnerID=8YFLogxK
U2 - 10.1080/02713683.2017.1304560
DO - 10.1080/02713683.2017.1304560
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AN - SCOPUS:85019756424
SN - 0271-3683
VL - 42
SP - 1240
EP - 1244
JO - Current Eye Research
JF - Current Eye Research
IS - 9
ER -