Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

C. Poulton; G. Pathak; K. Mina; T. Lassman; D. N. Azmanov; E. McCormack; S. Broley; L. Dreyer; D. Gration; E. Taylor; M. OSullivan; A. Siafarikis; M. Ravikumara; H. Dawkins; N. Pachter; G. Baynam

doi:10.1016/j.gene.2019.02.059

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

C. Poulton, G. Pathak, K. Mina, T. Lassman, D. N. Azmanov, E. McCormack, S. Broley, L. Dreyer, D. Gration, E. Taylor, M. OSullivan, A. Siafarikis, M. Ravikumara, H. Dawkins, N. Pachter, G. Baynam

Veterinary Population Medicine

Research output: Contribution to journal › Review article › peer-review

8 Scopus citations

Abstract

Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial dysmorphism, and hair and skin changes. THES is associated with pathogenic variants in either TTC37 or SKIV2L; both are components of the human SKI complex, an RNA exosome cofactor. We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L. While THES was considered in the differential diagnosis, the absence of protracted diarrhoea delayed definitive diagnosis. We therefore suggest that SKIV2L testing should be considered in cases otherwise suggestive of THES, but without the characteristic diarrhoea. We expand the phenotypic spectrum while reviewing the current knowledge on SKIV2L.

Original language	English (US)
Pages (from-to)	110-114
Number of pages	5
Journal	Gene
Volume	699
DOIs	https://doi.org/10.1016/j.gene.2019.02.059
State	Published - May 30 2019

Bibliographical note

Funding Information:
This review and corresponding Gene Wiki article are written as part of the Gene Wiki review series – a series resulting from a collaboration between the journal GENE and the Gene Wiki Initiative. The Gene Wiki Initiative is supported by the National Institutes of Health (GM089820). Additional support for Gene Wiki reviews is provided by Elsevier, the publisher of GENE. The authors would like to thank the patient and her family for participation of the study and the Raine clinical research fellowship for support of DA.

Funding Information:
DA was supported by a Raine Medical Research Foundation clinical research fellowship ( CRF018 , project “Diagnostic genomics applications for short stature”).

Funding Information:
The Undiagnosed Disease Program (WA) is supported by the Angela Wright Bennet Foundation and McCusker Charitable Foundation.

Publisher Copyright:
© 2019

Keywords

Next generation sequencing
RNA exosome
SKI complex
SKIV2L
Undiagnosed

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.gene.2019.02.059

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@article{57570f1871ca48108d2866fa202df3f0,

title = "Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea",

abstract = "Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial dysmorphism, and hair and skin changes. THES is associated with pathogenic variants in either TTC37 or SKIV2L; both are components of the human SKI complex, an RNA exosome cofactor. We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L. While THES was considered in the differential diagnosis, the absence of protracted diarrhoea delayed definitive diagnosis. We therefore suggest that SKIV2L testing should be considered in cases otherwise suggestive of THES, but without the characteristic diarrhoea. We expand the phenotypic spectrum while reviewing the current knowledge on SKIV2L.",

keywords = "Next generation sequencing, RNA exosome, SKI complex, SKIV2L, Undiagnosed",

author = "C. Poulton and G. Pathak and K. Mina and T. Lassman and Azmanov, {D. N.} and E. McCormack and S. Broley and L. Dreyer and D. Gration and E. Taylor and M. OSullivan and A. Siafarikis and M. Ravikumara and H. Dawkins and N. Pachter and G. Baynam",

note = "Funding Information: This review and corresponding Gene Wiki article are written as part of the Gene Wiki review series – a series resulting from a collaboration between the journal GENE and the Gene Wiki Initiative. The Gene Wiki Initiative is supported by the National Institutes of Health (GM089820). Additional support for Gene Wiki reviews is provided by Elsevier, the publisher of GENE. The authors would like to thank the patient and her family for participation of the study and the Raine clinical research fellowship for support of DA. Funding Information: DA was supported by a Raine Medical Research Foundation clinical research fellowship ( CRF018 , project “Diagnostic genomics applications for short stature”). Funding Information: The Undiagnosed Disease Program (WA) is supported by the Angela Wright Bennet Foundation and McCusker Charitable Foundation. Publisher Copyright: {\textcopyright} 2019",

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month = may,

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doi = "10.1016/j.gene.2019.02.059",

language = "English (US)",

volume = "699",

pages = "110--114",

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T1 - Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

AU - Poulton, C.

AU - Pathak, G.

AU - Mina, K.

AU - Lassman, T.

AU - Azmanov, D. N.

AU - McCormack, E.

AU - Broley, S.

AU - Dreyer, L.

AU - Gration, D.

AU - Taylor, E.

AU - OSullivan, M.

AU - Siafarikis, A.

AU - Ravikumara, M.

AU - Dawkins, H.

AU - Pachter, N.

AU - Baynam, G.

N1 - Funding Information: This review and corresponding Gene Wiki article are written as part of the Gene Wiki review series – a series resulting from a collaboration between the journal GENE and the Gene Wiki Initiative. The Gene Wiki Initiative is supported by the National Institutes of Health (GM089820). Additional support for Gene Wiki reviews is provided by Elsevier, the publisher of GENE. The authors would like to thank the patient and her family for participation of the study and the Raine clinical research fellowship for support of DA. Funding Information: DA was supported by a Raine Medical Research Foundation clinical research fellowship ( CRF018 , project “Diagnostic genomics applications for short stature”). Funding Information: The Undiagnosed Disease Program (WA) is supported by the Angela Wright Bennet Foundation and McCusker Charitable Foundation. Publisher Copyright: © 2019

PY - 2019/5/30

Y1 - 2019/5/30

N2 - Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial dysmorphism, and hair and skin changes. THES is associated with pathogenic variants in either TTC37 or SKIV2L; both are components of the human SKI complex, an RNA exosome cofactor. We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L. While THES was considered in the differential diagnosis, the absence of protracted diarrhoea delayed definitive diagnosis. We therefore suggest that SKIV2L testing should be considered in cases otherwise suggestive of THES, but without the characteristic diarrhoea. We expand the phenotypic spectrum while reviewing the current knowledge on SKIV2L.

AB - Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial dysmorphism, and hair and skin changes. THES is associated with pathogenic variants in either TTC37 or SKIV2L; both are components of the human SKI complex, an RNA exosome cofactor. We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L. While THES was considered in the differential diagnosis, the absence of protracted diarrhoea delayed definitive diagnosis. We therefore suggest that SKIV2L testing should be considered in cases otherwise suggestive of THES, but without the characteristic diarrhoea. We expand the phenotypic spectrum while reviewing the current knowledge on SKIV2L.

KW - Next generation sequencing

KW - RNA exosome

KW - SKI complex

KW - SKIV2L

KW - Undiagnosed

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DO - 10.1016/j.gene.2019.02.059

M3 - Review article

C2 - 30844479

AN - SCOPUS:85063005610

SN - 0378-1119

VL - 699

SP - 110

EP - 114

JO - Gene

JF - Gene

ER -

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

Abstract

Bibliographical note

Keywords

UN SDGs

Publisher link

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