与 PERCC1 相关的先天性肠病

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-10-29 DOI:10.1111/cge.14638

Lena S Kerle, Pia Karlsland Åkeson, Thomas Müller, Andreas R Janecke

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引用次数: 0

摘要

目前已知共有 14 名患者患有由影响 PERCC1 或其邻近调控区的双倍子缺失（ΔL 和 ΔS）或截断突变引起的非综合征性肠病。迄今为止，PERCC1 在 gnomAD 中仅在 GRCh38 参考序列中有注释。整个儿童期和青少年期都需要肠外营养。

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PERCC1-Related Congenital Enteropathy.

A total of 14 patients are known with the nonsyndromic enteropathy caused by biallelic deletions (∆L and ∆S) or truncating mutations affecting PERCC1 or its adjacent regulatory region. PERCC1 is so far in gnomAD only annotated in the GRCh38 reference sequence. Parenteral nutrition is required throughout childhood and often in adolescence.

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease