Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

ABSTRACT:

Background

In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome sequencing to identify the causal variant.

Materials and methods

Genomic DNA samples collected from 40 family members were analyzed. A whole-genome linkage scan was performed using Illumina HumanLinkage-24 BeadChip followed by two-point and multipoint linkage analyses using FASTLINK and MERLIN. Exome sequencing was performed on two affected individuals, followed by co-segregation analysis.

Results

Parametric multipoint linkage analysis using an AD inheritance model demonstrated HLOD scores > 2.00 at chromosomes 1p36.13-1p36.11 and 12q

SUBMITTER: Tompson SW 

PROVIDER: S-EPMC6680000 | biostudies-literature | 2017 Jan-Feb

REPOSITORIES: biostudies-literature