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

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

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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 language	English (US)
Pages (from-to)	2776-2781
Number of pages	6
Journal	American Journal of Medical Genetics, Part A
Volume	185
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.61965
State	Published - Sep 2021

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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10.1002/ajmg.a.61965

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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.",

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AU - Lachman, Ralph S.

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AU - Sanchez-Lara, Pedro A.

PY - 2021/9

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Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia

Abstract

Keywords

ASJC Scopus subject areas

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