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ISSN 2073-8137
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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:
1. Kang S. S., Shin S. H., Auh C. K., Chun J. Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. Exp. Mol. Med. 2012;44(12):707-722.
2. Kannu P., Aftimos S., Mayne V., Donnan L., Savarirayan R. Metatropic dysplasia: clinical and radiologic findings in 11 patients demonstrating long-term natural history. Am. J. Med. Genet. 2007;143A: 2512-2522.
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.
4. Nishimura G., Lausch E., Savarirayan R., Shiba M., Spranger J. et al. TRPV4-associated skeletal dysplasias. Am. J. Med. Genet. C. Semin. Med. Genet. 2012;160C(3):190-204.
5. Orphanet Reports Series. Available at http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=546&Disease_Disease_Search_diseaseGroup=Metatropic-dysplasia. Date of last application 5.04.2016.
6. Online Mendelian inheritance in man. Available at http://omim.org/entry/156530#11. Date of last application 5.04.2016.
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


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