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Curr Eye Res. 2017 Sep;42(9):1240-1244. doi: 10.1080/02713683.2017.1304560. Epub 2017 May 30.

NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.

Author information

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.

KEYWORDS:

Cataract; NHS; Nance–Horan; X-linked; infantile

PMID:
28557584
DOI:
10.1080/02713683.2017.1304560
[Indexed for MEDLINE]

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