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https://doi.org/10.14300/mnnc.2016.11029

Metatropic dysplasia: clinical and molecular diagnostics, genetic counseling

[Pediatrics]
Elizabeth Timkovskaya; Amin Makaov; Lyudmila Mikhailova; Tatyana Vasilyeva; А. Marakhonov; Varvara Galkina; Sergey Kutsev; Rena Zinchenko;

Metatropic dysplasia (MTD; OMIM #156530) is a rare spondyloepimetaphyseal dysplasia with autosomal dominant inheritance. Here we present the results of the clinical, radiological and molecular genetic diagnosis of MTD in a circassian girl with novel de novo p.Pro82Leu (NG_017090.1:g.23856C>T, c.245C>T) mutation in exon 1 of the TRPV4 gene. Considering gonadal mosaicism prenatal diagnosis in MTD families for the next pregnancies is recommended.

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References:
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Keywords: genetic epidemiology, metatropic dysplasia, TRPV4 gene, mutation de novo