scholarly journals Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

2015 ◽  
Vol 7 (1) ◽  
pp. 69-72 ◽  
Author(s):  
Abdullah Çim ◽  
Salih Coşkun ◽  
Orhan Görükmez ◽  
Hatice Yüksel ◽  
Ünal Uluca ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

2010 ◽  
Vol 51 (1) ◽  
pp. 107-110 ◽  
Author(s):  
S. R. Phadke ◽  
N. Gupta ◽  
K. M Girisha ◽  
M. Kabra ◽  
M. Maeda ◽  
...  
Keyword(s):  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1

Gene ◽  
2013 ◽  
Vol 518 (2) ◽  
pp. 461-466 ◽  
Author(s):  
Parisa Mohamadynejad ◽  
Kamran Ghaedi ◽  
Yousef Shafeghati ◽  
Ahmad Salamian ◽  
Somayeh Tanhaie ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Iranian Patient

scholarly journals Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

2014 ◽  
Vol 59 (7) ◽  
pp. 417-417
Author(s):  
Masafumi Noguchi ◽  
Masanori Honsho ◽  
Yuichi Abe ◽  
Ryusuke Toyama ◽  
Hajime Niwa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Mild Reduction

scholarly journals Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

2014 ◽  
Vol 59 (7) ◽  
pp. 387-392 ◽  
Author(s):  
Masafumi Noguchi ◽  
Masanori Honsho ◽  
Yuichi Abe ◽  
Ryusuke Toyama ◽  
Hajime Niwa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Mild Reduction

Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology

2011 ◽  
Vol 155 (12) ◽  
pp. 3160-3163 ◽  
Author(s):  
Gretchen Oswald ◽  
Cathleen Lawson ◽  
Gerald Raymond ◽  
W. Christopher Golden ◽  
Nancy Braverman
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

Neonatal Rhizomelic Chondrodysplasia Punctata Type 1

2017 ◽  
Vol 31 (4) ◽  
pp. 350-357 ◽  
Author(s):  
Jessica Landino ◽  
Amy J. Jnah ◽  
Desi M. Newberry ◽  
Sabine C. Iben
Keyword(s):  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation

2017 ◽  
Vol 30 (8) ◽  
Author(s):  
Nursel Muratoğlu Şahin ◽  
Meliha Esra Bilici ◽  
Erdal Kurnaz ◽  
Melek Pala Akdoğan ◽  
Serdar Ceylaner ◽  
...  
Keyword(s):  
Phytanic Acid ◽  
Biochemical Marker ◽  
Clinical Findings ◽  
Chondrodysplasia Punctata ◽  
Long Chain Fatty Acids ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Case Presentation ◽  
Limited Movement ◽  
Long Chain

AbstractBackground:Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type.Case presentation:A 2-month-19-day-old male child presented with symptoms of limited movement and discomfort with movement in the extremities. His sister, who had similar clinical findings, was diagnosed with tetralogy of Fallot and died at 6 months of age. A physical examination revealed an atypical facial appearance, bilateral cataracts, sensitivity to touch in the extremities, shortness in the proximal segments of the long bones, limited movement in both knees and elbows and axial hypotonicity. Laboratory analyses revealed normal ammonia, lactate, plasma and urine amino acids, long chain fatty acids and phytanic acid levels. Rhizomelia, significant metaphyseal expansion, irregularities in the cortex, loss of ossification, fragmented appearance and punctate calcifications in both elbows, both knees and in the femoral epiphysis were seen on the skeletal survey. A homozygote p.L70W (c.209T>G) mutation was found in theConclusions:Plasma phytanic acid levels can be normal in a patient with type 1 RCDP that develops as a result of a

scholarly journals Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Jessie C. Jacobsen ◽  
Emma Glamuzina ◽  
Juliet Taylor ◽  
Brendan Swan ◽  
Shona Handisides ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Bone Growth ◽  
Compound Heterozygous ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Japanese Family ◽  
Respiratory Illnesses ◽  
Whole Exome

We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at 19 years of age due to chronic respiratory illnesses without a unifying diagnosis. The brother remains alive but severely disabled at 19 years of age. Whole exome sequencing identified compound heterozygous stop mutations in theperoxisome biogenesis factor 7gene in both individuals. Mutations in this gene cause rhizomelic chondrodysplasia punctata, type 1 (RCDP1). One mutation,p.Arg232∗, has only been documented once before in a Japanese family, which is of interest given these two boys are of European descent. The other mutation,p.Leu292∗, is found in approximately 50% of RCDP1 patients. These are the first cases of RCDP1 that describe the coinheritance of thep.Arg232∗andp.Leu292∗mutations and demonstrate the utility of WES in cases with unclear diagnoses.

Sign in / Sign up

Export Citation Format

Share Document