Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype

Lee, Wen-I; Huang, Jing‐Long; Chen, Chien-Chang; Lin, Ju‐Li; Wu, Ren‐Chin; Jaing, Tang‐Her; Ou, Liang-Shiou

doi:10.1097/md.0000000000002918

Cited by 16 publications

(24 citation statements)

References 33 publications

(51 reference statements)

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“…We were surprised to identify several genes in our IPEX-like cohort that were not directly linked to immune regulation. Mutations in TTC7A ( 83 , 113 ) and TTC37 ( 100 , 114 ) have been associated with severe diarrhea, villous atrophy, recurrent infections and (in TTC7A) a SCID-like phenotype with multiple intestinal atresia. DOCK8 deficiency shares with IPEX some features such as atopic dermatitis, autoimmunity, recurrent infections including muco-cutaneous candidiasis but, with few exceptions ( 99 ), not inflammatory bowel disease.…”

Section: Discussionmentioning

confidence: 99%

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

et al. 2018

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Background: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome is a rare recessive disorder caused by mutations in the FOXP3 gene. In addition, there has been an increasing number of patients with wild-type FOXP3 gene and, in some cases, mutations in other immune regulatory genes.Objective: To molecularly asses a cohort of 173 patients with the IPEX phenotype and to delineate the relationship between the clinical/immunologic phenotypes and the genotypes.Methods: We reviewed the clinical presentation and laboratory characteristics of each patient and compared clinical and laboratory data of FOXP3 mutation-positive (IPEX patients) with those from FOXP3 mutation-negative patients (IPEX-like). A total of 173 affected patients underwent direct sequence analysis of the FOXP3 gene while 85 IPEX-like patients with normal FOXP3 were investigated by a multiplex panel of “Primary Immune Deficiency (PID—related) genes.”Results: Forty-four distinct FOXP3 variants were identified in 88 IPEX patients, 9 of which were not previously reported. Among the 85 IPEX-like patients, 19 different disease-associated variants affecting 9 distinct genes were identified.Conclusions: We provide a comprehensive analysis of the clinical features and molecular bases of IPEX and IPEX-like patients. Although we were not able to identify major distinctive clinical features to differentiate IPEX from IPEX-like syndromes, we propose a simple flow-chart to effectively evaluate such patients and to focus on the most likely molecular diagnosis. Given the large number of potential candidate genes and overlapping phenotypes, selecting a panel of PID-related genes will facilitate a molecular diagnosis.

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Section: Discussionmentioning

confidence: 99%

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

et al. 2018

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“…A detailed account is given in the following paragraphs. (4,23,27). In 10 cases (4,23) antibiotics had no effect and only in one case (27) lead to a temporary reduction in diarrhea.…”

Section: Clinical Datamentioning

confidence: 99%

“…Steroids were administered to 17 patients (4,17,23,26,27,30,(32)(33)(34). No effect was reported in 11 patients and in 5 patients only a partial amelioration was noted.…”

Section: Steroidsmentioning

confidence: 99%

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

Fabre

Bourgeois

Coste

et al. 2017

IRDR

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“…These are proteins of the SKI complex, which is a co-factor of the RNA exosome in the cytoplasm. 4 – 7 Exosomes are well preserved in all eukaryotic cells. As a result, yeast helped to identify the role of the superkiller complex (SKI complex), which is to contribute as a co-factor in the messenger RNA (mRNA) cytoplasmic degradation of the RNA exosome.…”

Section: Introductionmentioning

confidence: 99%

“…The TTC37 gene encodes the tetratricopeptide repeat protein 37 (Ski3 in yeast) and the SKIV2L encodes the helicase SKI2W (Ski2 in yeast). 4 , 5 …”

Section: Introductionmentioning

confidence: 99%

Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case

Xinias

Mavroudi

Mouselimis

et al. 2018

SAGE Open Medical Case Reports

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Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and failure to thrive. It has been associated with mutations in TTC37 and SKIV2L genes, which encode proteins of the SKI complex that contributes to the cytosolic degradation of the messenger RNA by the cell’s exosome. We report a case of a male infant who suffered from typical symptoms and signs of trichohepatoenteric syndrome without immunodeficiency. The patient’s genetic testing showed a very rare mutation in SKIV2L gene’s 25 exons (p.Glu1038 fs*7 (c.3112_3140del)). Even though our patient was provided with total parenteral nutrition from birth, the child’s death in the third year of age highlights the severity of the disease and the poor prognosis of this particular type of genetic predisposition.

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Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype

Abstract: Supplemental Digital Content is available in the text

Cited by 16 publications

References 33 publications

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

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

Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case

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