Open AccessA Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome
Author(s) -
Angita Jain,
Pavalan Selvam,
Herjot Atwal,
Paldeep S. Atwal
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1694767
Subject(s) - frameshift mutation , phenotype , genetics , biology , genotype , gene
Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in LEMD3 . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of LEMD3 detected a heterozygous frameshift pathogenic variant in both the affected family members. Besides the phenotypic description, this report highlights the need for a comprehensive evaluation in connective tissue disorders and the importance of genotype-phenotype correlation in BOS.