Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant-Reference-Cited by-同舟云学术

Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant

Published:2023-10-04 Issue: Volume: Page:
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Akgun-Dogan Ozlem^ORCID,Díaz-González Francisca^ORCID,de Lima Jorge Alexander Augusto^ORCID,Onenli-Mungan Neslihan,Menezes Andrade Nathalia Liberatoscioli,de Polli Cellin Laurana,Ceylaner Serdar,Barcellos Rosa Modkovski Maria,Alanay Yasemin,Heath Karen E.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01472-z.pdf

Reference17 articles.

1. Diaz-Gonzalez F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montane L, et al. Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia. J Med Genet. 2022;59:28–38.

2. Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, et al. Variable skeletal phenotypes associated with biallelic variants in PRKG2. J Med Genet. 2022;59:947–50.

3. Mollaoglu E, Uludag Alkaya D, Yildiz CA, Kasap B, Tuysuz B. Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2. Clin Genet. 2023;103:574–9.

4. Pfeifer A, Aszodi A, Seidler U, Ruth P, Hofmann F, Fassler R. Intestinal secretory defects and dwarfism in mice lacking cGMP-dependent protein kinase II. Science. 1996;274:2082–6.

5. Chikuda H, Kugimiya F, Hoshi K, Ikeda T, Ogasawara T, Shimoaka T, et al. Cyclic GMP-dependent protein kinase II is a molecular switch from proliferation to hypertrophic differentiation of chondrocytes. Genes Dev. 2004;18:2418–29.