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

Research output: Contribution to journalReview article

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 languageEnglish
Pages (from-to)110-114
Number of pages5
JournalGene
Volume699
DOIs
Publication statusPublished - 30 May 2019

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Diarrhea
Liver
Exosome Multienzyme Ribonuclease Complex
Genetic Databases
Delayed Diagnosis
Hair
Differential Diagnosis
Skin
Growth

Cite this

Poulton, C. ; Pathak, G. ; Mina, K. ; Lassman, T. ; Azmanov, D. N. ; McCormack, E. ; Broley, S. ; Dreyer, L. ; Gration, D. ; Taylor, E. ; OSullivan, M. ; Siafarikis, A. ; Ravikumara, M. ; Dawkins, H. ; Pachter, N. ; Baynam, G. / Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea. In: Gene. 2019 ; Vol. 699. pp. 110-114.
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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",
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Poulton, C, Pathak, G, Mina, K, Lassman, T, Azmanov, DN, McCormack, E, Broley, S, Dreyer, L, Gration, D, Taylor, E, OSullivan, M, Siafarikis, A, Ravikumara, M, Dawkins, H, Pachter, N & Baynam, G 2019, 'Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea' Gene, vol. 699, pp. 110-114. https://doi.org/10.1016/j.gene.2019.02.059

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea. / Poulton, C.; Pathak, G.; Mina, K.; Lassman, T.; Azmanov, D. N.; McCormack, E.; Broley, S.; Dreyer, L.; Gration, D.; Taylor, E.; OSullivan, M.; Siafarikis, A.; Ravikumara, M.; Dawkins, H.; Pachter, N.; Baynam, G.

In: Gene, Vol. 699, 30.05.2019, p. 110-114.

Research output: Contribution to journalReview article

TY - JOUR

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.

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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U2 - 10.1016/j.gene.2019.02.059

DO - 10.1016/j.gene.2019.02.059

M3 - Review article

VL - 699

SP - 110

EP - 114

JO - Gene

JF - Gene

SN - 0378-1119

ER -

Poulton C, Pathak G, Mina K, Lassman T, Azmanov DN, McCormack E et al. Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea. Gene. 2019 May 30;699:110-114. https://doi.org/10.1016/j.gene.2019.02.059