G.P.8 08 Identification of a desmin gene mutation in scapuloperoneal syndrome type Kaeser

2006 ◽  
Vol 16 (9-10) ◽  
pp. 708-709 ◽  
Author(s):  
M.C. Walter ◽  
P. Reilich ◽  
A. Huebner ◽  
D. Fischer ◽  
M. Vorgerd ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Syndrome Type ◽  
Scapuloperoneal Syndrome

scholarly journals Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

Brain ◽  
2007 ◽  
Vol 130 (6) ◽  
pp. 1485-1496 ◽  
Author(s):  
M. C. Walter ◽  
P. Reilich ◽  
A. Huebner ◽  
D. Fischer ◽  
R. Schroder ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Adult Onset ◽  
Phenotypic Spectrum ◽  
Scapuloperoneal Syndrome

Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 94S-99S ◽  
Author(s):  
Hidekane Yoshimura ◽  
Chie Oshikawa ◽  
Jun Nakayama ◽  
Hideaki Moteki ◽  
Shin-ichi Usami
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Usher Syndrome ◽  
Japanese Patients ◽  
Pathogenic Mutation ◽  
Clinical Findings ◽  
Syndrome Type ◽  
Asian Populations ◽  
Type 3 ◽  
Usher Syndrome Type

Objective: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings. Methods: Genetic analysis using massively parallel DNA sequencing (MPS) was conducted to search for 9 causative USH genes in 2 USH3 patients. Results: We identified the novel pathogenic mutation in the CLRN1 gene in 2 patients. The missense mutation was confirmed by functional prediction software and segregation analysis. Both patients were diagnosed as having USH3 caused by the CLRN1 gene mutation. Conclusion: This is the first report of USH3 with a CLRN1 gene mutation in Asian populations. Validating the presence of clinical findings is imperative for properly differentiating among USH subtypes. In addition, mutation screening using MPS enables the identification of causative mutations in USH. The clinical diagnosis of this phenotypically variable disease can then be confirmed.

Autoimmune Polyendocrine Syndrome Type 1 in North-Western France: AIRE Gene Mutation Specificities and Severe Forms Needing Immunosuppressive Therapies

2010 ◽  
Vol 74 (4) ◽  
pp. 275-284 ◽  
Author(s):  
E. Proust-Lemoine ◽  
P. Saugier-Véber ◽  
D. Lefranc ◽  
S. Dubucquoi ◽  
A. Ryndak ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Syndrome Type ◽  
Autoimmune Polyendocrine Syndrome ◽  
North Western ◽  
I Gene

scholarly journals THE CLINICAL CASE OF STARK–KAESER TYPE SCAPULOPERONEAL SYNDROME

2015 ◽  
Vol 14 (6) ◽  
pp. 115-118
Author(s):  
T. A. Valikova ◽  
V. M. Alifirova ◽  
I. V. Bychkova ◽  
K. Yu. Sabashkina
Keyword(s):  
Differential Diagnosis ◽  
Rare Case ◽  
Clinical Case ◽  
Neuromuscular Disorders ◽  
Syndrome Type ◽  
Scapuloperoneal Syndrome ◽  
Progressive Course

We present a rare case of Stark–Kaeser type scapuloperoneal syndrome type with mild weakness and hypotrophy in proximal limb, with rough paresis of feet, walking dysfunction and slowly-progressive course. The article briefly describes current views on the etiology and pathogenesis of this disease. The case is of interest to physicians of various specialties for the differential diagnosis of inherited neuromuscular disorders.

FAS Gene Mutation in a Case of Autoimmune Lymphoproliferative Syndrome Type IA With Accumulation of γδ+ T Cells

2003 ◽  
Vol 27 (4) ◽  
pp. 546-553 ◽  
Author(s):  
Anke van den Berg ◽  
Rienk Tamminga ◽  
Debora de Jong ◽  
Ewerton Maggio ◽  
Willem Kamps ◽  
...  
Keyword(s):  
T Cells ◽  
Gene Mutation ◽  
Γδ T Cells ◽  
Syndrome Type ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Type Ia ◽  
Lymphoproliferative Syndrome

scholarly journals Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation

2019 ◽  
Vol 67 (9) ◽  
pp. 1481
Author(s):  
Parijat Chandra ◽  
Devesh Kumawat ◽  
Vinod Kumar ◽  
Pranita Sahay ◽  
Grisilda Nongrem
Keyword(s):  
Gene Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome

scholarly journals Surgical Management of Intraoperative Aortic Dissection in Type 3 Loeys-Dietz Syndrome with MYH11 Co-Mutation

2021 ◽  
Vol 24 (2) ◽  
pp. E231-E232
Author(s):  
Fumiya Yoneyama ◽  
Hideyuki Kato ◽  
Bryan Mathis ◽  
Yuji Hiramatsu
Keyword(s):  
Aortic Dissection ◽  
Aortic Arch ◽  
Gene Mutation ◽  
Surgical Management ◽  
Dissecting Aneurysm ◽  
Rapid Progression ◽  
Syndrome Type ◽  
Contingency Plans ◽  
Type 3

A 57-year-old female with Loeys-Dietz syndrome type 3 and MYH11 gene mutation underwent unexpected intraoperative ascending aortic dissection and subsequent rapid progression of the aortic arch dissecting aneurysm. Intra-surgical contingency plans with regard to aortic dissection and aneurysm should be considered for Loeys-Dietz syndrome, especially with comorbid mutations.

Identification of a desmin gene mutation in scapuloperoneal syndrome

2007 ◽  
Vol 38 (01) ◽  
Author(s):  
MC Walter ◽  
P Reilich ◽  
A Huebner ◽  
D Fischer ◽  
M Vorgerd ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Scapuloperoneal Syndrome
Sign in / Sign up

Export Citation Format

Share Document