Nance-Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation.

ABSTRACT:

Background

Nance-Horan syndrome (NHS) is a rare and often overlooked X-linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift mutations, nonsense mutations, microdeletions, and insertions.

Methods

Copy number variation sequencing was performed to determine the microdeletion. The expression of NHS was detected by RT-PCR. Four family members were tested for X chromosome inactivation.

Results

In this study, all members were examined for systemic examinations and genetic testing of four members and two affected subjects are observed. We identified a heterozygous microdeletion of -0.52 Mb at Xp22.13 in a female proband presenting NHS phenotypically. The microdelet

SUBMITTER: Huang Y 

PROVIDER: S-EPMC9938751 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature