J Pediatr Genet 2020; 09(02): 117-120
DOI: 10.1055/s-0039-1698446
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

Pavalan Selvam
1   Department of Clinical and Biochemical Genetics, The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
,
Shekhar Singh
1   Department of Clinical and Biochemical Genetics, The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
,
Angita Jain
1   Department of Clinical and Biochemical Genetics, The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
,
Herjot Atwal
1   Department of Clinical and Biochemical Genetics, The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
,
Paldeep S. Atwal
1   Department of Clinical and Biochemical Genetics, The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
› Author Affiliations

Funding None.
Further Information

Publication History

21 July 2019

03 September 2019

Publication Date:
16 October 2019 (online)

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Abstract

Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. Here, we describe a 2-year-old girl presenting from birth with a phenotype suggestive of OSMED. On whole exome sequence analysis of the family via commercially available methods, we detected two novel heterozygous pathogenic variants in the proband. In addition, we reviewed the phenotype of autosomal recessive OSMED cases with COL11A2 pathogenic variants reported to date and quantitatively highlighted the phenotypic spectrum.

Note

ClinVar accession numbers are as follows:


Variant 1: c.339_340delCCinsG, p.Leu114Trpfs*31 (accession number: SCV000590729.2).


Variant 2: c.190 C > T, p.Arg64* (accession number: SCV000590451.3).