Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia

Breann Reinsch; Katheryn Grand; Ralph S Lachman; Harry K W Kim; Pedro A Sanchez-Lara

doi:10.1002/ajmg.a.61965

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia

Am J Med Genet A. 2021 Sep;185(9):2776-2781. doi: 10.1002/ajmg.a.61965. Epub 2020 Nov 27.

Authors

Breann Reinsch¹, Katheryn Grand², Ralph S Lachman^{3

4

5}, Harry K W Kim^{6

7}, Pedro A Sanchez-Lara^{2

8}

Affiliations

¹ Master of Science in Genetic Counseling Program, School of Pharmacy and Health Sciences, Keck Graduate Institute, Claremont, California, USA.
² Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
³ Department of Radiological Sciences and Pediatrics, UCLA School of Medicine, Los Angeles, California, USA.
⁴ Stanford University, Stanford, California, USA.
⁵ International Skeletal Dysplasia Registry, California, Los Angeles, USA.
⁶ Center for Excellence in Hip, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA.
⁷ Department of Orthopedic Surgery, UT Southwestern Medical Center, Dallas, Texas, USA.
⁸ David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.

PMID: 33247527
DOI: 10.1002/ajmg.a.61965

Abstract

RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old male with a history of lower leg pain and concern for an unspecified form of multiple epiphyseal dysplasia (MED). Exome sequencing revealed a de novo heterozygous RPL13 c.477+1G>A (IVS4+1G>A) pathogenic variant. This is the first identified case of an individual with an RPL13-related skeletal dysplasia, normal height, and radiographs consistent with a form of MED and Legg-Calve-Perthes-like disease. This case expands the phenotype of RPL13-related disorders.

Keywords: Legg-Calve-Perthes; RPL13; RPL13-related disorder; avascular necrosis of the femoral head; multiple epiphyseal dysplasia; skeletal dysplasia.

Publication types

Case Reports

MeSH terms

Adult
Child
Female
Humans
Male
Mutation*
Neoplasm Proteins / genetics*
Osteochondrodysplasias / genetics
Osteochondrodysplasias / pathology*
Phenotype*
Ribosomal Proteins / genetics*

Substances

Neoplasm Proteins
RPL13 protein, human
Ribosomal Proteins