Expanding the phenotypic spectrum of RPL13 ‐related skeletal dysplasia
| Autor: | Pedro A. Sanchez-Lara, Katheryn Grand, Ralph S. Lachman, Harry K W Kim, Breann Reinsch |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Spondyloepimetaphyseal dysplasia Pathology medicine.medical_specialty business.industry Genu varum Disease 030105 genetics & heredity medicine.disease Short stature Phenotype Multiple epiphyseal dysplasia 03 medical and health sciences 030104 developmental biology Dysplasia Genetics Medicine medicine.symptom business Genetics (clinical) Exome sequencing |
| Zdroj: | American Journal of Medical Genetics Part A. 185:2776-2781 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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