Further phenotypic features and two novel <em>POC1A</em> variants in a patient with SOFT syndrome: A case report

Li,Songting; Zhong,Yan; Yang,Yongjia; He,Siping; He,Wenjuan

doi:10.3892/mmr.2021.12133

Further phenotypic features and two novel POC1A variants in a patient with SOFT syndrome: A case report

Authors:
- Songting Li
- Yan Zhong
- Yongjia Yang
- Siping He
- Wenjuan He
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Affiliations: Children's Healthcare Institute, Hunan Children's Hospital, University of South China, Changsha, Hunan 410007, P.R. China, The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, Hunan Children's Hospital, University of South China, Changsha, Hunan 410007, P.R. China, Department of Radiology, Hunan Children's Hospital, University of South China, Changsha, Hunan 410007, P.R. China
Published online on: May 5, 2021 https://doi.org/10.3892/mmr.2021.12133
Article Number: 494
Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome is a rare autosomal recessive disease caused by POC1 centriolar protein A (POC1A) pathogenic variants. However, knowledge of genotypic and phenotypic features of SOFT syndrome remain limited as few families have been examined; therefore, the clinical identification of SOFT syndrome remains a challenge. The aim of the present case report was to investigate the genetic cause of this syndrome in a patient with a short stature, unusual facial appearance, skeletal dysplasia and sparse body hair. Giemsa banding and exome sequencing were performed to investigate the genetic background of the family. Spiral computed tomography and magnetic resonance imaging were used for investigating further phenotypic features of the patient. Exome sequencing identified that POC1A had two compound heterozygous variants, namely c.850_851insG and c.593_605delGTGGGACGTGCAT, which, to the best of our knowledge, have not been reported elsewhere. Novel phenotypes were also identified as follows: i) Metaphyseal dysplasia was alleviated (and/or even disappeared) with age; ii) the density of the femoral neck was uneven and the hyperintensity signal of the metaphysis was stripe‑like. Thus, the present case report expands the knowledge regarding phenotypic and genotypic features of SOFT syndrome.

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