AMOTL1相关多发性先天畸形（颅面心肝综合征，CFCHS）：包括颅面、心脏和肝脏异常的新临床谱系。

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-11-13 DOI:10.1111/cge.14644

Natalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra, Julián Nevado, Mario Cazalla, Elsa Lucas-Castro, Karen E Heath, María Palomares, Emma Soengas, M Dolores Lledín, Emily Larrea, Antonio Olveira, Beatriz Morte, Ángel Carracedo, Pablo Lapunzina

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引用次数: 0

摘要

我们在一名患者体内发现了一个 AMOTL1 变异体，这为 AMOTL1 相关疾病与其他影响颅面、心脏和肝脏发育的综合征之间的临床和分子重叠提供了证据。随着更多病例的发现，我们建议将这一实体命名为 AMOTL1 相关多发性先天畸形或颅颌心肝综合征（CFCHS）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

We identified an AMOTL1 variant in a patient that adds evidence supporting the clinical and molecular overlap between AMOTL1-related disorders and other syndromes affecting craniofacial, cardiac, and hepatic development. As more cases are identified, we propose naming this entity as AMOTL1-associated multiple congenital anomalies or craniofaciocardiohepatic syndrome (CFCHS).

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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