Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome

Truncating variants in specific exons of Fibrosin-like protein 1 (FBRSL1) were recently reported to cause a novel malformation and intellectual disability syndrome. The clinical spectrum includes microcephaly, facial dysmorphism, cleft palate, skin creases, skeletal anomalies and contractures, postn...

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Autores principales:	Silke Pauli, Hanna Berger, Roser Ufartes, Annette Borchers
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	FBRSL1 AUTS2 malformation syndrome embryonic development polycomb complex Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/bf5a218efda245e2b6a5e11276f151a4
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spelling	oai:doaj.org-article:bf5a218efda245e2b6a5e11276f151a42021-11-05T07:06:01ZComparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome2296-634X10.3389/fcell.2021.779009https://doaj.org/article/bf5a218efda245e2b6a5e11276f151a42021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fcell.2021.779009/fullhttps://doaj.org/toc/2296-634XTruncating variants in specific exons of Fibrosin-like protein 1 (FBRSL1) were recently reported to cause a novel malformation and intellectual disability syndrome. The clinical spectrum includes microcephaly, facial dysmorphism, cleft palate, skin creases, skeletal anomalies and contractures, postnatal growth retardation, global developmental delay as well as respiratory problems, hearing impairment and heart defects. The function of FBRSL1 is largely unknown, but pathogenic variants in the FBRSL1 paralog Autism Susceptibility Candidate 2 (AUTS2) are causative for an intellectual disability syndrome with microcephaly (AUTS2 syndrome). Some patients with AUTS2 syndrome also show additional symptoms like heart defects and contractures overlapping with the phenotype presented by patients with FBRSL1 mutations. For AUTS2, a dual function, depending on different isoforms, was described and suggested for FBRSL1. Both, nuclear FBRSL1 and AUTS2 are components of the Polycomb subcomplexes PRC1.3 and PRC1.5. These complexes have essential roles in developmental processes, cellular differentiation and proliferation by regulating gene expression via histone modification. In addition, cytoplasmic AUTS2 controls neural development, neuronal migration and neurite extension by regulating the cytoskeleton. Here, we review recent data on FBRSL1 in respect to previously published data on AUTS2 to gain further insights into its molecular function, its role in development as well as its impact on human genetics.Silke PauliHanna BergerRoser UfartesAnnette BorchersFrontiers Media S.A.articleFBRSL1AUTS2malformation syndromeembryonic developmentpolycomb complexBiology (General)QH301-705.5ENFrontiers in Cell and Developmental Biology, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	FBRSL1 AUTS2 malformation syndrome embryonic development polycomb complex Biology (General) QH301-705.5
spellingShingle	FBRSL1 AUTS2 malformation syndrome embryonic development polycomb complex Biology (General) QH301-705.5 Silke Pauli Hanna Berger Roser Ufartes Annette Borchers Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome
description	Truncating variants in specific exons of Fibrosin-like protein 1 (FBRSL1) were recently reported to cause a novel malformation and intellectual disability syndrome. The clinical spectrum includes microcephaly, facial dysmorphism, cleft palate, skin creases, skeletal anomalies and contractures, postnatal growth retardation, global developmental delay as well as respiratory problems, hearing impairment and heart defects. The function of FBRSL1 is largely unknown, but pathogenic variants in the FBRSL1 paralog Autism Susceptibility Candidate 2 (AUTS2) are causative for an intellectual disability syndrome with microcephaly (AUTS2 syndrome). Some patients with AUTS2 syndrome also show additional symptoms like heart defects and contractures overlapping with the phenotype presented by patients with FBRSL1 mutations. For AUTS2, a dual function, depending on different isoforms, was described and suggested for FBRSL1. Both, nuclear FBRSL1 and AUTS2 are components of the Polycomb subcomplexes PRC1.3 and PRC1.5. These complexes have essential roles in developmental processes, cellular differentiation and proliferation by regulating gene expression via histone modification. In addition, cytoplasmic AUTS2 controls neural development, neuronal migration and neurite extension by regulating the cytoskeleton. Here, we review recent data on FBRSL1 in respect to previously published data on AUTS2 to gain further insights into its molecular function, its role in development as well as its impact on human genetics.
format	article
author	Silke Pauli Hanna Berger Roser Ufartes Annette Borchers
author_facet	Silke Pauli Hanna Berger Roser Ufartes Annette Borchers
author_sort	Silke Pauli
title	Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome
title_short	Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome
title_full	Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome
title_fullStr	Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome
title_full_unstemmed	Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome
title_sort	comparing a novel malformation syndrome caused by pathogenic variants in fbrsl1 to auts2 syndrome
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/bf5a218efda245e2b6a5e11276f151a4
work_keys_str_mv	AT silkepauli comparinganovelmalformationsyndromecausedbypathogenicvariantsinfbrsl1toauts2syndrome AT hannaberger comparinganovelmalformationsyndromecausedbypathogenicvariantsinfbrsl1toauts2syndrome AT roserufartes comparinganovelmalformationsyndromecausedbypathogenicvariantsinfbrsl1toauts2syndrome AT annetteborchers comparinganovelmalformationsyndromecausedbypathogenicvariantsinfbrsl1toauts2syndrome
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Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome

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