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[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.
References:
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3. Krakow D., Vriens J., Camacho N., Luong P., Deixler H. et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am. J. Hum. Genet. 2009;84:307-315.
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7. Tae-Joon C., Kazu M., Dai J., Cho T. J., Matsumoto K. et al. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. Am. J. Med. Genet. 2012;158A(4):795-802.
Keywords: genetic epidemiology, metatropic dysplasia, TRPV4 gene, mutation de novo