Mucolipidosis IV: Report of a Case with Ocular Restricted Phenotype Caused by Leaky Splice Mutation

2007 ◽  
Vol 143 (4) ◽  
pp. 663-671.e2 ◽  
Author(s):  
Robert Dobrovolny ◽  
Petra Liskova ◽  
Jana Ledvinova ◽  
Helena Poupetova ◽  
Befekadu Asfaw ◽  
...  
Keyword(s):  
Splice Mutation ◽  
Mucolipidosis Iv

Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Enderli ◽  
B. Heinrich ◽  
P. Joset ◽  
J. De Geyter ◽  
J. Scheer ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
Autosomal Recessive Cerebellar Ataxia

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

2017 ◽  
Vol 55 (1) ◽  
pp. 39-47 ◽  
Author(s):  
Benjamin Roeben ◽  
Rebecca Schüle ◽  
Susanne Ruf ◽  
Benjamin Bender ◽  
Bader Alhaddad ◽  
...  
Keyword(s):  
Large Family ◽  
Splice Mutation ◽  
Intermediate Phenotype ◽  
Common Disease ◽  
Juvenile Onset ◽  
Phenotypic Spectrum ◽  
Whole Exome ◽  
Complex Lipid ◽  
Glutaconic Acid ◽  
Methylglutaconic Aciduria

ObjectiveTo demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding SERAC1 to the increasing number of complex lipid cHSP genes.MethodsCombined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family.Results5 of 6 affected subjects shared cHSP as a common disease phenotype. Three subjects presented with juvenile-onset oligosystemic cHSP, still able to walk several miles at age >10–20 years. This benign phenotypic cluster and disease progression is strikingly divergent to the severe infantile phenotype of all SERAC1 cases reported so far. Two family members showed a more multisystemic juvenile-onset cHSP, indicating an intermediate phenotype between the benign oligosystemic cHSP and the classic infantile SERAC1 cluster. The homozygous splice mutation led to loss of the full-length SERAC1 protein and impaired phosphatidylglycerol PG34:1/PG36:1 remodelling. These phosphatidylglycerol changes, however, were milder than in classic infantile-onset SERAC1 cases, which might partially explain the milder SERAC1 phenotype.ConclusionsOur findings add SERAC1 to the increasing list of complex lipid cHSP genes. At the same time they redefine the phenotypic spectrum of SERAC1 deficiency. It is associated not only with the severe infantile-onset ‘Methylglutaconic aciduria, Deafness, Encephalopathy, Leigh-like’ syndrome (MEGDEL syndrome), but also with oligosystemic juvenile-onset cHSP as part of the now unfolding SERAC1 deficiency spectrum.

The Cornea in Mucolipidosis IV

1976 ◽  
Vol 13 (5) ◽  
pp. 289-295
Author(s):  
S Merin ◽  
P Nemet ◽  
N Livni ◽  
M Lazar
Keyword(s):  
Mucolipidosis Iv

Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants

1997 ◽  
Vol 128 (1) ◽  
pp. 75-83 ◽  
Author(s):  
Henrik Nissen ◽  
Annebirthe Bo Hansen ◽  
Per Guldberg ◽  
Niels Erik Petersen ◽  
Torben Stiig Hansen ◽  
...  
Keyword(s):  
Ldl Receptor ◽  
Splice Mutation ◽  
Mrna Variants

scholarly journals Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

2004 ◽  
Vol 20 (6) ◽  
pp. 325-332 ◽  
Author(s):  
R. M. Shawky ◽  
N.S. Sayed ◽  
N.A. Elhawary
Keyword(s):  
Restriction Endonuclease ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
The Other ◽  
Splice Acceptor ◽  
Acceptor Splice Site ◽  
Congenital Ichthyosis ◽  
Transglutaminase 1 ◽  
Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. We identified 5 alleles in two Egyptian families as having intron-5/exon-6 splice acceptor mutation recognized by theMspIrestriction endonuclease. This promoted to a frequency of 9.6% for this mutation (5 splice-mutation alleles/52 alleles tested). We extended our previous dataset to update the detection of R142H mutation in 4 CIE Egyptian families and one LI phenotype (frequency of 28.8%; 15/52), whereas we still had no R141H among our Egyptian population. There was no correlation between phenotype and genotype in our study. Surprisingly, the mutant alleles detected in intron-5 acceptor splice-site were associated with the other extreme of CIE phenotypes rather than the severe LI form. We clearly demonstrated that the ARCI Egyptian families in Upper Egypt was ethnically pure and had a tendency not to be a hybrid with other populations in Lower Egypt, Delta zone and Cairo city.

A Homozygous Splice Mutation in theHSF4Gene Is Associated with an Autosomal Recessive Congenital Cataract

2004 ◽  
Vol 45 (8) ◽  
pp. 2716 ◽  
Author(s):  
Nizar Smaoui ◽  
Omar Beltaief ◽  
Sonia BenHamed ◽  
Ridha M’Rad ◽  
Faouzi Maazoul ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Splice Mutation

A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA

1993 ◽  
Vol 2 (11) ◽  
pp. 1965-1966 ◽  
Author(s):  
Thilo Dork ◽  
Katrin Will ◽  
Annette Demmer ◽  
Burkhard Tummler
Keyword(s):  
Cystic Fibrosis ◽  
Exon Skipping ◽  
Splice Mutation ◽  
Donor Splice
Sign in / Sign up

Export Citation Format

Share Document