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https://www.readbyqxmd.com/read/29896840/17q21-32-q22-deletion-in-a-girl-with-osteogenesis-imperfecta-tricho-dento-osseous-syndrome-and-intellectual-disability
#1
Takayuki Yokoi, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
The17q21q22 region contains COL1A1 and DLX3. COL1A1 haploinsufficiency mutations and heterozygous deletion of the entire COL1A1 gene lead to the mildest form of Osteogenesis Imperfecta (OI) type 1 (Bardai et al., 2015; Mannstadt et al., 2014; van Dijk et al., 2010).
June 12, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29604248/mir-675-promotes-odontogenic-differentiation-of-human-dental-pulp-cells-by-epigenetic-regulation-of-dlx3
#2
Li Zeng, Na Zhao, Fang Li, Dong Han, Yang Liu, Haochen Liu, Shichen Sun, Yixiang Wang, Hailan Feng
In a previous study, we showed that microRNA-675 (miR-675) was significantly down-regulated in patients with tricho-dento-osseous (TDO) syndrome. One of the main features of TDO syndrome is dentin hypoplasia. Thus, we hypothesize that miR-675 plays a role in dentin development. In this study, we determined the role of miR-675 in the odontogenic differentiation of human dental pulp cells (hDPCs). Stable overexpression and knockdown of miR-675 in hDPCs were performed using recombinant lentiviruses containing U6 promoter-driven miR-675 and short hairpin-miR675 expression cassettes, respectively...
June 1, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29530237/-trichobezoar-as-cause-of-ileus-with-several-perforations-of-the-small-intestine-in-a-15-year-old-girl
#3
Sophie Ovesen, Michala Herskind Sejr, Peter Andersen
A 15-year-old girl was admitted to the paediatric ward due to abdominal pain, vomiting and diarrhoea. Her symptoms could not be explained by the clinical examinations, blood samples or ultrasound, but she had a history of tricho-phagia. A CT-scan showed gastric retention, and an endoscopy revealed a trichobezoar, which was removed by a laparotomy. Furthermore, a smaller bezoar and three perforations were found in the proximal part of the small intestine. The treatment of trichobezoars should include surgery as well as multidisciplinary involvement to prevent future trichophagia...
March 12, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29527791/tricho-hepato-enteric-syndrome-mutation-update-mutations-spectrum-of-ttc37-and-skiv2l-clinical-analysis-and-future-prospects
#4
Patrice Bourgeois, Clothilde Esteve, Charlène Chaix, Christophe Béroud, Nicolas Lévy, Alexandre Fabre, Catherine Badens
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...
March 11, 2018: Human Mutation
https://www.readbyqxmd.com/read/29484573/genetic-and-structural-analysis-of-a-skiv2l-mutation-causing-tricho-hepato-enteric-syndrome
#5
Iddo Vardi, Ortal Barel, Michal Sperber, Michael Schvimer, Moran Nunberg, Michael Field, Jodie Ouahed, Dina Marek-Yagel, Lael Werner, Yael Haberman, Avishay Lahad, Yair Anikster, Gideon Rechavi, Iris Barshack, Joshua J McElwee, Joseph Maranville, Raz Somech, Scott B Snapper, Batia Weiss, Dror S Shouval
BACKGROUND: Advances in genomics have facilitated the discovery of monogenic disorders in patients with unique gastro-intestinal phenotypes. Syndromic diarrhea, also called tricho-hepato-enteric (THE) syndrome, results from deleterious mutations in SKIV2L or TTC37 genes. The main features of this disorder are intractable diarrhea, abnormal hair, facial dysmorphism, immunodeficiency and liver disease. AIM: To report on a patient with THE syndrome and present the genetic analysis that facilitated diagnosis...
May 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29436063/sequence-variants-in-gdf5-and-trps1-underlie-brachydactyly-and-tricho-rhino-phalangeal-syndrome-type-iii
#6
Asmat Ullah, Muhammad Umair, Shabir Hussain, Abid Jan, Wasim Ahmad
No abstract text is available yet for this article.
March 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29400302/a-novel-missense-mutation-in-exon-3-of-the-trps1-gene-in-a-patient-with-a-mild-phenotype-of-tricho-rhino-phalangeal-syndrome-type-1
#7
Ryotaro Torai, Teruhiko Makino, Megumi Mizawa, Yutaka Shimomura, Tadamichi Shimizu
No abstract text is available yet for this article.
February 5, 2018: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29383842/a-new-mutation-in-the-c-terminal-end-of-ttc37-leading-to-a-mild-form-of-syndromic-diarrhea-tricho-hepato-enteric-syndrome-in-seven-patients-from-two-families
#8
Alexandre Fabre, Laetitia-Marie Petit, Lars F Hansen, Anne V Wewer, Clothilde Esteve, Charlène Chaix, Patrice Bourgeois, Catherine Badens, Anders Paerregaard
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities. SD/THE is caused by mutations in TTC37 or SKIV2L, two genes encoding components of the human SKI complex. To date, approximately 50 SD/THE patients have been described with a wide spectrum of mutations, and only one recurrent mutation has been identified in independent families...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29174094/missense-mutation-of-ttc7a-mimicking-tricho-hepato-enteric-sd-the-syndrome-in-a-patient-with-very-early-onset-inflammatory-bowel-disease
#9
João Farela Neves, Isabel Afonso, Luis Borrego, Catarina Martins, Ana Isabel Cordeiro, Conceição Neves, Caroline Lacoste, Catherine Badens, Alexandre Fabre
Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities...
April 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29145277/tricho-hepato-enteric-syndrome-with-novel-skiv2l-gene-mutations-a-case-report
#10
Eitaro Hiejima, Takahiro Yasumi, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Ikuo Okafuji, Tohru Yorifuji, Takayuki Tanaka, Kazushi Izawa, Tomoki Kawai, Ryuta Nishikomori, Toshio Heike
RATIONALE: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29138122/a-novel-mutation-in-trps1-in-a-patient-with-tricho-rhino-phalangeal-syndrome-type-1-accompanied-by-vesicoureteral-reflux
#11
Naoko Morimoto, Akira Shimizu, Kazunori Ohnishi, Yutaka Shimomura
No abstract text is available yet for this article.
December 1, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29096685/clinical-spectrum-of-woolly-hair-indications-for-cerebral-involvement
#12
Piero Pavone, Raffaele Falsaperla, Massimo Barbagallo, Agata Polizzi, Andrea D Praticò, Martino Ruggieri
BACKGROUND: Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isolated or localized wooly hair is usually benign and is not related to other disorders and/or complications. On the contrary, the generalized type may be related to disorders and syndromes affecting heart, cutis, liver and gastrointestinal organs. Among the syndromes presenting with wooly hair, the most known are the Naxos syndrome, the Carvajal-Huerta syndrome, the wooly hair/hypotrichosis, the ectodermal dysplasia-skin fragility, the tricho-hepato-enteric syndrome...
November 2, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28963438/dlx3-promotes-bone-marrow-mesenchymal-stem-cell-proliferation-through-h19-mir-675-axis
#13
Na Zhao, Li Zeng, Yang Liu, Dong Han, Haochen Liu, Jian Xu, Yuxi Jiang, Cuiying Li, Tao Cai, Hailan Feng, Yixiang Wang
The underlying molecular mechanism of the increased bone mass phenotype in Tricho-dento-osseous (TDO) syndrome remains largely unknown. Our previous study has shown that the TDO point mutation c.533A>G, Q178R in DLX3 could increase bone density in a TDO patient and transgenic mice partially through delaying senescence in bone marrow mesenchymal stem cells (BMSCs). In the present study, we provided a new complementary explanation for TDO syndrome: the DLX3 (Q178R) mutation increased BMSCs proliferation through H19/miR-675 axis...
November 15, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28944135/management-of-syndromic-diarrhea-tricho-hepato-enteric-syndrome-a-review-of-the-literature
#14
REVIEW
Alexandre Fabre, Patrice Bourgeois, Marie-Edith Coste, Céline Roman, Vincent Barlogis, Catherine Badens
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of TTC37 , 14 of SKIV2L ...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28670783/a-de-novo-germline-mutation-of-dlx3-in-a-brown-swiss-calf-with-tricho-dento-osseus-like-syndrome
#15
Sonja Hofstetter, Monika Welle, Daniela Gorgas, Pierre Balmer, Petra Roosje, Thomas Mock, Mireille Meylan, Vidhya Jagannathan, Cord Drögemüller
OBJECTIVE: A novel congenital disorder affecting a calf was observed, and its phenotype and genetic mutation identified. ANIMAL: A six-month-old female Brown Swiss calf. METHODS: Diagnostic investigation and whole genome sequencing of a case parent trio was performed. RESULTS: The calf had a dull kinky coat with mild hypotrichosis, and teeth with brown staining and enamel defects. Histological examination of skin biopsies was compatible with a follicular dysplasia...
July 2, 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28515447/dlx3-interacts-with-gcm1-and-inhibits-its-transactivation-stimulating-activity-in-a-homeodomain-dependent-manner-in-human-trophoblast-derived-cells
#16
Sha Li, Mark S Roberson
The placental transcription factors Distal-less 3 (DLX3) and Glial cell missing-1 (GCM1) have been shown to coordinate the specific regulation of PGF in human trophoblast cell lines. While both factors independently have a positive effect on PGF gene expression, when combined, DLX3 acts as an antagonist to GCM. Despite this understanding, potential mechanisms accounting for this regulatory interaction remain unexplored. We identify physical and functional interactions between specific domains of DLX3 and GCM1 in human trophoblast-derived cells by performing immunoprecipitation and mammalian one hybrid assays...
May 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28468609/a-novel-trps1-mutation-in-a-moroccan-family-with-tricho-rhino-phalangeal-syndrome-type-iii-case-report
#17
W Smaili, S Chafai Elalaoui, S Meier, M Zerkaoui, A Sefiani, K Heinimann
BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation...
May 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28441830/-a-case-of-tricho-hepato-enteric-syndrome
#18
J J Chen, L P Shi
No abstract text is available yet for this article.
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28298997/tricho-dento-osseous-syndrome-and-precocious-eruption
#19
Parul Jain, Rahul Kaul, Subrata Saha, Subir Sarkar
Tricho-dento-osseous syndrome (TDO), an uncommon form of ectodermal dysplasia is an autosomal dominant genetic disorder which is characterized by inherited defects in tissues arising from epithelial-mesenchymal interaction. Genetic studies have revealed that it is caused by mutation in the DLX3 gene. TDO presents with a great phenotypic heterogeneity and studies have suggested that this heterogeneity is the result of environmental factors or other genetic modifiers. In this article, we report a case of TDO in which the child had typical clinical features of hair, teeth and bone defects, as seen in TDO...
March 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28256045/two-cases-of-legg-perthes-and-intellectual-disability-in-tricho-rhino-phalangeal-syndrome-type-1-associated-with-novel-trps1-mutations
#20
Jordana L Gilman, Heather A Newman, Rebecca Freeman, Kathryn E Singh, Rebecca L Puckett, David K Morohashi, Constance Stein, Kathryn Palomino, Robert Roger Lebel, Virginia E Kimonis
Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. In this report, we describe two patients with the physical manifestations and genotype of TRPS type I but with learning/intellectual disability not typically described as part of the syndrome...
June 2017: American Journal of Medical Genetics. Part A
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