Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

Izumi, Kosuke; Takagi, Masaki; Parikh, Aditi; Hahn, Amanda; Miskovsky, Shana; Nishimura, Gen; Torii, Chiharu; Kosaki, Kenjiro; Hasegawa, Tomonobu; Neilson, Derek

doi:10.1002/ajmg.a.33511

Cited by 14 publications

(7 citation statements)

References 27 publications

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“…TRPS1 was reported to act as a crucial transcription factor for the development and differentiation of normal tissues, such as bone, hair follicles and kidney [33, 34]. Nonetheless, its role in cancer progression remains largely unknown.…”

Section: Discussionmentioning

confidence: 99%

GATA3 and TRPS1 are distinct biomarkers and prognostic factors in breast cancer: database mining for GATA family members in malignancies

et al. 2017

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GATA transcription factors are zinc finger DNA binding proteins that activate transcription during development and cell differentiation. To date, 7 members of GATA family have been reported. However, the expression patterns and the exact roles of distinct GATA family members contributing to tumorigenesis and progression of breast cancer (BC) remain to be elucidated. Here, we studied the expression of GATA transcripts in a variety of tumor types compared with the normal controls using the ONCOMINE and GOBO databases, along with their corresponding expression profiles in an array of cancer cell lines through CCLE analysis. Based on Kaplan-Meier plotter, we further investigated the prognostic values of GATA members specifically high expressed in BC patients. It was found that, when compared with normal tissues, GATA3 and TRPS1 were distinctly high expressed in BC patients among all GATA members. GATA3 expression was significantly associated with ESR1, while TRPS1 was correlated with ERBB2. In survival analysis, GATA3 and TRPS1 mRNA high expressions were correlated to better survival in BC patients, and TRPS1 high expression was significantly associated with longer RFS in patients who have received chemotherapy. These results suggest that GATA3 and TRPS1 are distinct biomarkers and essential prognostic factors for breast cancer.

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Section: Discussionmentioning

confidence: 99%

GATA3 and TRPS1 are distinct biomarkers and prognostic factors in breast cancer: database mining for GATA family members in malignancies

et al. 2017

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“…Using TargetScan software, 93 and 148 genes were predicted to be targets for miR-876–3p and miR-876–5p, respectively. Among them, ACTN4 (actinin, alpha 4) [34], MBNL1 (muscleblind-like) [35], and SEPN1 (selenoprotein N, 1) [36] are involved in muscle metabolism, and ANKH (ankylosis, progressive homolog) [37], TAPT1 (transmembrane anterior posterior transformation 1) [38], and TRPS1 (trichorhinophalangeal syndrome I) [39] are related to bone metabolism. For MIR873 , 176 target genes were identified using the TargetScan platform.…”

Section: Discussionmentioning

confidence: 99%

Bivariate Genome-Wide Association Analyses of Femoral Neck Bone Geometry and Appendicular Lean Mass

et al. 2011

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ObjectiveFemoral neck geometric parameters (FNGPs), such as periosteal diameter (W), cross-sectional area (CSA), cortical thickness (CT), buckling ratio (BR), and section modulus (Z), are highly genetically correlated with body lean mass. However, the specific SNPs/genes shared by these phenotypes are largely unknown.MethodsTo identify the specific SNPs/genes shared between FNGPs and appendicular lean mass (ALM), we performed an initial bivariate genome-wide association study (GWAS) by scanning ∼690,000 SNPs in 1,627 unrelated Han Chinese adults (802 males and 825 females) and a follow-up replicate study in 2,286 unrelated US Caucasians.ResultsWe identified 13 interesting SNPs that may be important for both FNGPs and ALM. Two SNPs, rs681900 located in the HK2 (hexokinase 2) gene and rs11859916 in the UMOD (uromodulin) gene, were bivariately associated with FNGPs and ALM (p = 7.58×10−6 for ALM-BR and p = 2.93×10−6 for ALM-W, respectively). The associations were then replicated in Caucasians, with corresponding p values of 0.024 for rs681900 and 0.047 for rs11859916. Meta-analyses yielded combined p values of 3.05×10−6 and 2.31×10−6 for rs681900 and rs11859916, respectively. Our findings are consistent with previous biological studies that implicated HK2 and UMOD in both FNGPs and ALM. Our study also identified a group of 11 contiguous SNPs, which spanned a region of ∼130 kb, were bivariately associated with FNGPs and ALM, with p values ranging from 3.06×10−7 to 4.60×10−6 for ALM-BR. The region contained two neighboring miRNA coding genes, MIR873 (MicroRNA873) and MIR876 (MicroRNA876).ConclusionOur study implicated HK2, UMOD, MIR873 and MIR876, as pleiotropic genes underlying variation of both FNGPs and ALM, thus suggesting their important functional roles in co-regulating both FNGPs and ALM.

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“…Clinically, both diseases involved bone and joint. Although TRPS has traditionally been considered dysplastic damage, which was different with the inflammatory lesion in AS patients, adult TRPS patients have also been reported to have osteopenia and severe early-onset osteoarthritis 8 .…”

Section: Discussionmentioning

confidence: 99%

A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis

Xiao-Kai

Yang

2022

Ann Dermatol

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Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities and short stature; it is classified into three subtypes according to genetics and clinical manifestations. We report a Han Chinese family with 2 TRPS type III patients, the proband and his mother, with typical clinical presentation. There were also 3 ankylosing spondylitis (AS) patients in this family, the proband’s mother and 2 uncles. A missense mutation, c.2762G>A (p.Arg921Gln), in the transcriptional repressor GATA binding 1 ( TRPS1 ) gene was detected in the proband and his mother. The association between TRPS and AS and the diagnostic criteria for TRPS are discussed.

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Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

Cited by 14 publications

References 27 publications

GATA3 and TRPS1 are distinct biomarkers and prognostic factors in breast cancer: database mining for GATA family members in malignancies

GATA3 and TRPS1 are distinct biomarkers and prognostic factors in breast cancer: database mining for GATA family members in malignancies

Bivariate Genome-Wide Association Analyses of Femoral Neck Bone Geometry and Appendicular Lean Mass

A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis

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