A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family

2011 ◽  
Vol 155 (6) ◽  
pp. 1285-1289 ◽  
Author(s):  
Dar-Shong Lin ◽  
Chun-Yan Yeung ◽  
Hsuan-Liang Liu ◽  
Che-Sheng Ho ◽  
Chyong-Hsin Shu ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Premature Aging ◽  
Cutis Laxa

scholarly journals Autosomal recessive cutis laxa Type II: Report of novel mutation in a child

2017 ◽  
Vol 8 (5) ◽  
pp. 352
Author(s):  
Rakesh Kumar ◽  
Sheetal Sharda ◽  
Vimlesh Soni ◽  
Kaniyappan Nambiyar
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Cutis Laxa ◽  
Type Ii

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Blood ◽  
2002 ◽  
Vol 100 (2) ◽  
pp. 692-694 ◽  
Author(s):  
Daniel F. Wallace ◽  
Palle Pedersen ◽  
Jeannette L. Dixon ◽  
Peter Stephenson ◽  
Jeffrey W. Searle ◽  
...  
Keyword(s):  
Iron Transport ◽  
Autosomal Recessive ◽  
Iron Homeostasis ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Hfe Gene ◽  
Excess Iron ◽  
Chromosome 1Q ◽  
Australian Family ◽  
Autosomal Recessive Pattern

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.

A novel mutation in thePLCD1gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia

2012 ◽  
Vol 167 (4) ◽  
pp. 946-949 ◽  
Author(s):  
M. Farooq ◽  
M. Kurban ◽  
O. Abbas ◽  
O. Obeidat ◽  
H. Fujikawa ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Aberrant Splicing

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

2013 ◽  
Vol 110 (3) ◽  
pp. 352-361 ◽  
Author(s):  
Aikaterini Dimopoulou ◽  
Björn Fischer ◽  
Thatjana Gardeitchik ◽  
Phillipe Schröter ◽  
Hülya Kayserili ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in theEDARgene

2008 ◽  
Vol 146A (20) ◽  
pp. 2657-2662 ◽  
Author(s):  
Hala Mégarbané ◽  
Céline Cluzeau ◽  
Christine Bodemer ◽  
Sylvie Fraïtag ◽  
Myrna Chababi-Atallah ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Unusual Presentation
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