C.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms.

ABSTRACT:

Objective

To identify genetic causes of Shabbir syndrome in two patients of Pakistani origin.

Methods

In the present study, we have investigated a Pakistani family with two affected members segregating Laryngo-onycho-cutaneous (LOC) syndrome. The patients were diagnosed as suspected cases of LOC based on phenotypes including abnormal larynx, nails, and hyperpigmentation in patients' eyes. Genetic investigation was done by performing whole exome sequencing (WES) using DNA of the patients. Sanger sequencing was performed to validate WES findings and segregation analysis in the family.

Results

Data analysis of exomes and Sanger sequencing of patients revealed a homozygous one base pair duplication (NM_000227.6; LAMA3; c.151dup; p.Val51GlyfsTer4) in LAMA3 in

SUBMITTER: Ullah A 

PROVIDER: S-EPMC10364244 | biostudies-literature | 2023 Jul-Aug

REPOSITORIES: biostudies-literature