Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StateAccepted/In press - 2020

Keywords

  • Legg–Calve–Perthes
  • RPL13
  • RPL13-related disorder
  • avascular necrosis of the femoral head
  • multiple epiphyseal dysplasia
  • skeletal dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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