Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency

Sohn, Young Bae; Ki, Chang‐Seok; Park, Sung Won; Cho, Sung-Yoon; Ko, Ah-Ra; Kwon, Min‐Jung; Kim, Ji-Youn; Park, Hyung-Doo; Kim, Ok-Hwa; Jin, Dong‐Kyu

doi:10.1186/1687-9856-2013-s1-p59

Cited by 13 publications

(19 citation statements)

References 21 publications

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“…That is, the growth retardation is a progressive process that can be appreciated in metacarpophalangeal pattern profile (MCPP) analysis comparing children and adults, and comparisons of their relative height [ 100 ]. Growth hormone deficiency has been reported in some cases [ 103 - 105 ]. Intellectual disability has also been reported in the three types, but most commonly in TRPS II [ 100 , 101 , 106 , 107 ].…”

Section: Brachydactyly Type E As Part Of Syndromesmentioning

confidence: 99%

Brachydactyly E: isolated or as a feature of a syndrome

Pereda

Garin

García-Barcina

et al. 2013

Orphanet J Rare Dis

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Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals.

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Section: Brachydactyly Type E As Part Of Syndromesmentioning

confidence: 99%

Brachydactyly E: isolated or as a feature of a syndrome

Pereda

Garin

García-Barcina

et al. 2013

Orphanet J Rare Dis

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“…The third exon contains a Kozak consensus ATG translation start site and the first C 2 H 2 -type zinc finger domain. The seventh exon encodes an Ikaros-type zinc finger domain and a TAA stop codon [5]. TRPS1 encodes a 1281-amino-acid (aa) zinc-finger transcription factor that has a calculated molecular mass of 160 kDa and contains an unusual combination of nine predicted zinc finger domains, including seven classical C 2 H 2 -type domains, which are related to those found in the transcription factor TFIIIA of Xenopus laevis, one GATA C4-type domain, and two Ikaros C 2 H 2 -type zinc fingers [6].…”

Section: Introductionmentioning

confidence: 99%

Increased Expression of TRPS1 Affects Tumor Progression and Correlates with Patients' Prognosis of Colon Cancer

Hong

Sun

Huang

2013

BioMed Research International

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Aim. To detect the expression pattern of tricho-rhino-phalangeal syndrome-1 (TRPS1) in human colon cancer and to analyze its correlation with prognosis of patients with this disease. Methods. The expressions of TRPS1 in human colon cancer and its corresponding noncancerous colon tissues were detected at both mRNA and protein levels. Results. The mRNA and protein expression levels of TRPS1 were both significantly higher in colon cancer than in corresponding noncancerous colon tissues (both P < 0.001). The protein level of TRPS1 in colon cancer tissues was significantly correlated with the mRNA level (r = 0.9, P < 0.001). Additionally, immunohistochemistry analysis also found increased TRPS1 expression in 63.0% (63/100) of colon cancer tissues. High TRPS1 expression was significantly associated with positive lymph node metastasis (P = 0.006) and higher pathological stage (P = 0.008) of patients with colon cancer. Multivariate Cox regression analysis further suggested that the increased expression of TRPS1 was an independent poor prognostic factor for this disease. Conclusion. Our data offer the convincing evidence for the first time that the increased expression of TRPS1 may be involved in the pathogenesis and progression of colon cancer. TRPS1 might be a potential marker to predict the prognosis in colon cancer.

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“…Moreover, his sparse hair was diagnosed as androgenetic alopecia by a dermatologist and he only complained of a non-specific fatigue and malaise. Several studies reported TRPS1 cases with endocrine disturbances, including diabetes mellitus, hypothyroidism, and growth hormone deficiency [6]. These endocrinal disorders may be the cause of fatigue or malaise, but endocrine functions were normal in our case to clearly explain his chronic fatigue and more studies are warranted to extrapolate it.…”

Section: Discussionmentioning

confidence: 61%

A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

2018

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Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

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Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency

Cited by 13 publications

References 21 publications

Brachydactyly E: isolated or as a feature of a syndrome

Brachydactyly E: isolated or as a feature of a syndrome

Increased Expression of TRPS1 Affects Tumor Progression and Correlates with Patients' Prognosis of Colon Cancer

A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

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