Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

ABSTRACT:

Background

Absence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associated with other lower-limb abnormalities such as ACL agnesia and absence of the menisci of the knee. While a few cases of absence of ACL/PCL are reported in the literature, a number of large familial case series of related conditions such as ACL agnesia suggest a potential underlying monogenic etiology. We performed whole exome sequencing of a family with two individuals affected by ACL/PCL.

Results

We identified copy number variation (CNV) deletion impacting the exon sequences of CEP57L1, present in the affected mother and her affected daughter based on the exo

SUBMITTER: Liu Y 

PROVIDER: S-EPMC4642759 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature