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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
Author(s) -
Macchiaiolo Marina,
Panfili Filippo M.,
Vecchio Davide,
Cortellessa Fabiana,
Gonfiantini Michaela V.,
Buonuomo Paola S.,
Pietrobattista Andrea,
Francalanci Paola,
Travaglini Lorena,
Bertini Enrico S.,
El Hachem Maya,
Bartuli Andrea
Publication year - 2022
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62906
Subject(s) - medicine , liver disease , proband , muscle contracture , myopathy , gastroenterology , pathology , surgery , mutation , biology , biochemistry , gene
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.