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聚焦于肝受累的 FAM111B 相关疾病表型扩展：文献复习、一例终末期肝病病例报告及新缩略语建议。

Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.

机构信息

Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.

Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

出版信息

Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23.

DOI:10.1002/ajmg.a.62906
PMID:35869874
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9546324/
Abstract

POIKiloderma, tendon contractures, myopathy, pulmonary fibrosis is a congenital multisystem disorder due to FAM111B dominant variants. We present a literature review focusing on the frequency and the impact of hepatic involvement and a case report of a patient with severe end-stage liver disease. Whole exome sequencing (WES) was conducted on the proband and his parents. A de novo FAM111B: c.1879A > G; (p.Arg627Gly) variant was identified. Hepatic involvement is present in 11 out of the 30 patients described in the literature, with different levels of dysfunction ranging from mild transaminitis to liver fibrosis found in three different cases by liver biopsies. Liver involvement seems to be a significant cause of morbidity. We propose to modify the previous acronym in POIK-TMPL: including POIKiloderma, tendon contractures, myopathy, pulmonary fibrosis/pancreas insufficiency and cancer, liver involvement/lymphedema. Moreover, we suggest screening patients with FAM111B variants for liver involvement from the first month of life and continue with an appropriate follow-up. Further studies are needed to better understand this frequent complication.

摘要

POIK 综合征，包括进行性肌营养不良、多发关节挛缩、肺纤维化，是一种常染色体显性遗传的多系统疾病，由 FAM111B 基因突变引起。本文回顾性分析了文献中肝脏受累的频率和影响，并报道了 1 例严重终末期肝病患者。先证者及其父母均行全外显子组测序（WES）。发现了 1 个新的 FAM111B 基因杂合变异：c.1879A>G（p.Arg627Gly）。文献报道的 30 例患者中有 11 例存在肝脏受累，肝活检显示 3 例患者存在不同程度的肝功能异常，包括轻度氨基转移酶升高和肝纤维化。肝脏受累似乎是导致发病的重要原因。我们建议将 POIK 综合征的英文缩写 POIK-TMPL 进行修改，增加肝脏受累和淋巴水肿相关的内容，改为 POIK-TMPLIE：包括 POIKiloderma，tendon contractures，myopathy，pulmonary fibrosis/pancreas insufficiency and cancer，liver involvement/lymphedema。此外，我们建议对携带 FAM111B 基因突变的患者从出生后第 1 个月开始筛查肝脏受累，并进行适当的随访。需要进一步研究以更好地了解这种常见的并发症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab08/9546324/b8f3d3020bab/AJMG-188-2920-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab08/9546324/eba0d1ab8294/AJMG-188-2920-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab08/9546324/ca4ab021026d/AJMG-188-2920-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab08/9546324/24c91085da94/AJMG-188-2920-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab08/9546324/b8f3d3020bab/AJMG-188-2920-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab08/9546324/eba0d1ab8294/AJMG-188-2920-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab08/9546324/ca4ab021026d/AJMG-188-2920-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab08/9546324/24c91085da94/AJMG-188-2920-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab08/9546324/b8f3d3020bab/AJMG-188-2920-g001.jpg

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本文引用的文献

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