A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.,Molecular Genetics & Genomic Medicine

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A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-22 , DOI: 10.1002/mgg3.1413
Afrooz Sepahvand ₁ , Ehsan Razmara ₂ , Fatemeh Bitarafan ₃ , Mohammad Galehdari ₄ , Ali Reza Tavasoli ₅ , Navid Almadani ₆ , Masoud Garshasbi ₇

Affiliation

Homozygous loss‐of‐function mutations in TSEN54 (tRNA splicing endonuclease subunit 54; OMIM: 608755) cause different types of pontocerebellar hypoplasias (PCH) including PCH2, PCH4, and PCH5. The study aimed to determine the possible genetic factors contributing to PCH phenotypes in two affected male infants in an Iranian family.

中文翻译：

tRNA剪接核酸内切酶亚基54中的纯合子变体在近亲伊朗家庭中引起脑小脑发育不全。

TSEN54（tRNA拼接核酸内切酶亚基54; OMIM：608755）的纯合功能丧失突变引起不同类型的桥脑小脑发育不全（PCH），包括PCH2，PCH4和PCH5。该研究旨在确定伊朗家庭中两个受影响的男婴中可能导致PCH表型的遗传因素。

更新日期：2020-07-22

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