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Published on: August 15, 2019
Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report
Michele A Tchio Tchoumba1, Yan Bai1, Runming Jin1
1Pediatric Department, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Abstract:
Metatropic dysplasia (MD), is a rare skeletal dysplasia occurring predominantly in infants characterized by a distinctive long torso and short limbs; it is as a result of mutations in the TRPV4 gene. However, a clear distinction between various forms of skeletal dysplasias caused by the transient receptor potential vanilloid 4 (TRPV4) gene is difficult but could be achieved by a combination of gene sequencing, medical and radiological criteria. We hereby report a case of a 14-month old girl who presented with an abnormal stature. The diagnosis of nonlethal MD was confirmed by X-ray with dumbbell-shaped long bones, platyspondyly, and delayed carpal ossification, as well as broadened pelvis with marginally widened ilia, epiphyseal plates, and slightly flattened acetabula. Furthermore, gene sequencing confirmed gene mutation on exon 15 of the TRPV4 gene with a heterozygous missense mutation (c.2396C > T), but no mutation was present in her parents. Our findings recorded metatropic dysplasia with the c.2396C > T mutation in the TRPV4 gene in China. This mutation caused changes in amino acid of TRPV4, which can induce growth retardation in children.
Insights
Metatropic dysplasia, a rare skeletal disorder, is caused by TRPV4 gene mutations. This case highlights a specific mutation (c.2396C > T) linked to growth retardation in a Chinese infant.
Area of Science:
- Genetics
- Pediatrics
- Radiology
Background:
- Metatropic dysplasia (MD) is a rare skeletal dysplasia characterized by a long torso and short limbs.
- Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene are the primary cause of MD.
- Distinguishing between TRPV4-related skeletal dysplasias can be challenging, requiring integrated diagnostic approaches.
Observation:
- A 14-month-old girl presented with abnormal stature and features consistent with nonlethal MD.
- Radiological findings included dumbbell-shaped long bones, platyspondyly, delayed carpal ossification, and pelvic abnormalities.
- Gene sequencing identified a novel heterozygous missense mutation (c.2396C > T) in exon 15 of the TRPV4 gene, absent in her parents.
Findings:
- The study confirms metatropic dysplasia associated with the c.2396C > T mutation in the TRPV4 gene in a Chinese patient.
- This specific mutation alters the TRPV4 protein's amino acid sequence.
- The identified mutation is implicated in causing growth retardation in affected children.
Implications:
- This case expands the known spectrum of TRPV4 mutations causing metatropic dysplasia.
- Accurate genetic diagnosis is crucial for understanding the prognosis and potential management of MD.
- Further research into TRPV4 mutations can improve diagnostic criteria and therapeutic strategies for skeletal dysplasias.
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