A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia

2004 ◽  
Vol 116 (1-2) ◽  
pp. 114-120 ◽  
Author(s):  
Samuel Canizales-Quinteros ◽  
Carlos A. Aguilar-Salinas ◽  
Adriana Huertas-Vázquez ◽  
María L. Ordóñez-Sánchez ◽  
Maribel Rodríguez-Torres ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Recessive Hypercholesterolemia

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

1997 ◽  
Vol 236 (3) ◽  
pp. 544-548 ◽  
Author(s):  
Ellen A.C.M. van Beurden ◽  
Michelle de Graaf ◽  
Udo Wendel ◽  
Richard Gitzelmann ◽  
Ruud Berger ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Phosphorylase Kinase ◽  
Site Mutation ◽  
Gene Encoding ◽  
Gamma Subunit

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

2010 ◽  
Vol 162 (6) ◽  
pp. 1384-1387 ◽  
Author(s):  
C. Covaciu ◽  
M. Castori ◽  
N. De Luca ◽  
P. Ghirri ◽  
A. Nannipieri ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Epidermolytic Ichthyosis

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

2006 ◽  
Vol 16 (7) ◽  
pp. 432-436 ◽  
Author(s):  
Juliane S. Müller ◽  
Henriett Piko ◽  
Benedikt G.H. Schoser ◽  
Beate Schlotter-Weigel ◽  
Peter Reilich ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Site Mutation

scholarly journals A Novel GALNT3 Mutation in a Pseudoautosomal Dominant Form of Tumoral Calcinosis: Evidence That the Disorder Is Autosomal Recessive

2005 ◽  
Vol 90 (4) ◽  
pp. 2420-2423 ◽  
Author(s):  
Shoji Ichikawa ◽  
Kenneth W. Lyles ◽  
Michael J. Econs
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Tumoral Calcinosis ◽  
Proper Function ◽  
Single Mutation ◽  
Recessive Trait ◽  
Site Mutation ◽  
Dominant Form ◽  
Biallelic Mutations

Abstract Familial tumoral calcinosis is a rare metabolic disorder, characterized by ectopic calcification and hyperphosphatemia. Recently biallelic mutations in the GalNAc transferase 3 (GALNT3) gene were identified in two families with tumoral calcinosis. In the present study, we performed mutation analysis of the GALNT3 gene in a multigenerational family, which was originally described to have an autosomal dominant form of tumoral calcinosis. We identified a novel splice site mutation in intron 1 (IVS1–2a→t), likely leading to skipping of exon 2. The proband was a compound heterozygote for the splice site mutation and the previously reported nonsense mutation (484C→T; R162X). His affected maternal great uncle was homozygous for the splice site mutation. Biallelic mutations found in two generations demonstrated that the family had pseudoautosomal dominant inheritance, confirming that tumoral calcinosis is in fact an autosomal recessive trait. However, genetic and biochemical findings suggest that carriers of a single mutation may also manifest subtle biochemical abnormalities. Furthermore, coexpression of GALNT3 and fibroblast growth factor 23 (FGF23), a key regulator of phosphate homeostasis, in certain tissues suggests that O-glycosylation of FGF23 by GALNT3 may be necessary for proper function of FGF23.

Expression studies of a novel splice site mutation in theLIPHgene identified in a Japanese patient with autosomal recessive woolly hair

2014 ◽  
Vol 41 (10) ◽  
pp. 890-894 ◽  
Author(s):  
Ryota Hayashi ◽  
Shigeki Inui ◽  
Muhammad Farooq ◽  
Masaaki Ito ◽  
Yutaka Shimomura
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Japanese Patient ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Expression Studies ◽  
Woolly Hair
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