Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome

Lee, Way Seah; Teo, Kai M.; Ng, Ruey Terng; Chong, Sze Yee; Kee, Boon Pin; Chua, Kek Heng

doi:10.1016/j.gene.2016.03.049

Cited by 19 publications

(19 citation statements)

References 27 publications

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“…11 were given hydrolyzed formula, 7 an elemental formula, 4 a gluten free diet and 3 a lactose free diet and 3 a glucose-galactose free diet. Except for elemental formula which led to an amelioration of the diarrhea for 2 patients (21,24), all other types of diet did not improve the diarrhea. For one patient, both soy based formula and artisanal rice water with sugar cane were provided, but did not improve diarrhea (30).…”

Section: Diet Managementmentioning

confidence: 86%

“…However, there is some variability and 17% of the patients did not require parenteral nutrition. Except for some cases (19,24), it is not clear whether the absence of parenteral nutrition was due to non-availability or for some other reason. With parenteral nutrition, weaning can be achieved in nearly 50% of the patients as already reported in the literature (35).…”

Section: Discussionmentioning

confidence: 99%

“…Of the twelve patients who were not given parenteral nutrition, one was reported to have a normal diet (24) and one was given hydrolyzed formula (32). There is no data of the diet for the others.…”

Section: Diet Managementmentioning

confidence: 99%

“…Five patients were given elemental formula and/or gluten free and cow's-milk-free diets (18). All the others were given a different diet: no gluten or cow's milk (4), hydrolyzed formula (4), elemental formula (24), or a hydrolyzed formula, gluten free diversified diet (11,34), or normal diet with enteral supplement (24) or glucose galactose free formula (31).…”

Section: Diet Managementmentioning

confidence: 99%

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Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

Fabre

Bourgeois

Coste

et al. 2017

IRDR

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Section: Diet Managementmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Diet Managementmentioning

confidence: 99%

Section: Diet Managementmentioning

confidence: 99%

See 2 more Smart Citations

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

Fabre

Bourgeois

Coste

et al. 2017

IRDR

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“…Finally, two individuals with PCH1b contained compound heterozygous EXOSC3 (G31A) and EXOSC3 (W238R) mutations in the N-terminal domain and KH domain, respectively, of EXOSC3; one individual (Boczonadi et al 2014). In addition, an RBM7 mutation has been identified in an individual with spinal motor neuropathy, similar to spinal muscular atrophy (Giunta et al 2016), and SKIV2L and TTC37 mutations have been identified in individuals with trichohepatoenteric syndrome (THES) (Hartley et al 2010;Fabre et al 2011Fabre et al , 2012Kammermeier et al 2014;Oz-Levi et al 2015;Lee et al 2016b;Zheng et al 2016;Kinnear et al 2017). Although most affected individuals with exosome subunit/cofactor mutations have reduced life span and quality of life, mild disease here specifically indicates that the individuals are still living or lived for several years, whereas severe disease indicates that the individuals died within two years.…”

Section: Wwwrnajournalorg 131mentioning

confidence: 99%

The RNA exosome and RNA exosome-linked disease

Morton

Kuiper

Jones

et al. 2017

RNA

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The RNA exosome is an evolutionarily conserved, ribonuclease complex that is critical for both processing and degradation of a variety of RNAs. Cofactors that associate with the RNA exosome likely dictate substrate specificity for this complex. Recently, mutations in genes encoding both structural subunits of the RNA exosome and its cofactors have been linked to human disease. Mutations in the RNA exosome genes and cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are similar autosomal-recessive, neurodegenerative diseases. Mutations in the RNA exosome gene cause a distinct syndrome with various tissue-specific phenotypes including retinitis pigmentosa and mild intellectual disability. Mutations in genes that encode RNA exosome cofactors also cause tissue-specific diseases with complex phenotypes. How mutations in these genes give rise to distinct, tissue-specific diseases is not clear. In this review, we discuss the role of the RNA exosome complex and its cofactors in human disease, consider the amino acid changes that have been implicated in disease, and speculate on the mechanisms by which exosome gene mutations could underlie dysfunction and disease.

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Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum ofTTC37andSKIV2L, clinical analysis and future prospects

et al. 2018

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Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in mammals nor of the pathophysiology of the disease. Since the identification of the genes, we have set up the molecular diagnostic of THES in routine, gathering a large cohort with clinical and molecular data. Here, we report the phenotype and genotype analysis of this cohort together with an extensive literature review of THES cases worldwide, that is, 96 individuals harboring mutations in one gene or the other. We set up locus-specific databases for both genes and reviewed the type of mutation as well as their localization in the proteins. No hot spot is evidenced for any type of mutation. The phenotypic analysis was first made on the whole cohort but is limited due to heterogeneity in clinical descriptions. We then examined the lab diagnostic cohort in detail for clinical manifestations. For the first time, we are able to suggest that patients lacking SKIV2L seem more severely affected than those lacking TTC37, in terms of liver damage and prenatal growth impairment.

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Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome

Cited by 19 publications

References 27 publications

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

The RNA exosome and RNA exosome-linked disease

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum ofTTC37andSKIV2L, clinical analysis and future prospects

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