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

2018 ◽  
Vol 28 (2) ◽  
pp. 271-272
Author(s):  
Ryotaro Torai ◽  
Teruhiko Makino ◽  
Megumi Mizawa ◽  
Yutaka Shimomura ◽  
Tadamichi Shimizu
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Mild Phenotype

scholarly journals Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Mohammad M. Al-Qattan ◽  
Zuhair A. Rahbeeni ◽  
Zuhair N. Al-Hassnan ◽  
Abdulaziz Jarman ◽  
Atif Rafique ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Syndrome Type ◽  
Partial Deletion ◽  
Gene Deletions ◽  
Mild Phenotype ◽  
Contiguous Gene ◽  
Chromosome 16P13.3 ◽  
Contiguous Gene Deletion Syndrome

The classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5′ region), which might explain his relatively mild phenotype.

A Novel Missense Mutation of the Bilirubin UDP-Glucuronosyltransferase Gene in a Turkish Patient With Crigler-Najjar Syndrome Type 1

2003 ◽  
Vol 37 (5) ◽  
pp. 627-630 ◽  
Author(s):  
Yoshihiro Maruo ◽  
Erkin Serdaroglu ◽  
Masaru Iwai ◽  
Hiroko Takahashi ◽  
Asami Mori ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Turkish Patient ◽  
Udp Glucuronosyltransferase

A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1

1999 ◽  
Vol 13 (1) ◽  
pp. 85-85
Author(s):  
T.G. Markova ◽  
S.P. Shevtsov ◽  
L.N. Moskolenko ◽  
A.A. Lantsov ◽  
E.I. Schwartz
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome

Challenges in the Diagnostic Conceptualization of CRPS-1 (Formerly Conceptualized as RSD)

2006 ◽  
Vol 11 (2) ◽  
pp. 1-3, 9-12
Author(s):  
Robert J. Barth ◽  
Tom W. Bohr
Keyword(s):  
Clinical Practice ◽  
Complex Regional Pain Syndrome ◽  
Somatoform Disorders ◽  
International Association ◽  
Pain Syndrome ◽  
Somatoform Disorder ◽  
Syndrome Type ◽  
Previous Issue

Abstract From the previous issue, this article continues a discussion of the potentially confusing aspects of the diagnostic formulation for complex regional pain syndrome type 1 (CRPS-1) proposed by the International Association for the Study of Pain (IASP), the relevance of these issues for a proposed future protocol, and recommendations for clinical practice. IASP is working to resolve the contradictions in its approach to CRPS-1 diagnosis, but it continues to include the following criterion: “[c]ontinuing pain, which is disproportionate to any inciting event.” This language only perpetuates existing issues with current definitions, specifically the overlap between the IASP criteria for CRPS-1 and somatoform disorders, overlap with the guidelines for malingering, and self-contradiction with respect to the suggestion of injury-relatedness. The authors propose to overcome the last of these by revising the criterion: “[c]omplaints of pain in the absence of any identifiable injury that could credibly account for the complaints.” Similarly, the overlap with somatoform disorders could be reworded: “The possibility of a somatoform disorder has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a somatoform scenario.” The overlap with malingering could be addressed in this manner: “The possibility of malingering has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a malingering scenario.” The article concludes with six recommendations, and a sidebar discusses rating impairment for CRPS-1 (with explicit instructions not to use the pain chapter for this purpose).

Management of Complex Regional Pain Syndrome Type 1 with Barbiturate Coma Therapy -A case report-

2006 ◽  
Vol 19 (2) ◽  
pp. 213
Author(s):  
Tae Kyu Park ◽  
Kyung Ream Han ◽  
Dong Wook Shin ◽  
Young Joo Lee ◽  
Chan Kim
Keyword(s):  
Case Report ◽  
Complex Regional Pain Syndrome ◽  
Pain Syndrome ◽  
Syndrome Type ◽  
Barbiturate Coma
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