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J Pediatr Genet 2020; 09(01): 063-065
DOI: 10.1055/s-0039-1694767
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome

Angita Jain
1   The Atwal Clinic: Genomic and Personalized Medicine, Jacksonville, Florida, United States
,
Pavalan Selvam
1   The Atwal Clinic: Genomic and Personalized Medicine, Jacksonville, Florida, United States
,
Herjot Atwal
1   The Atwal Clinic: Genomic and Personalized Medicine, Jacksonville, Florida, United States
,
Paldeep S. Atwal
1   The Atwal Clinic: Genomic and Personalized Medicine, Jacksonville, Florida, United States
› Author Affiliations
Further Information

Publication History

28 June 2019

09 July 2019

Publication Date:
26 August 2019 (online)

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Abstract

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.

Keywords

familial Buschke–Ollendorf syndrome - osteopoikilosis - collagenoma - LEMD3
 

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