Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

2002 ◽  
Vol 109 (4) ◽  
pp. 328-331 ◽  
Author(s):  
Olaf A.F. Bodamer ◽  
Heather J. Church ◽  
Alan Cooper ◽  
J. Ed Wraith ◽  
C. Ronald Scott ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Compound Heterozygosity ◽  
Dysmorphic Features ◽  
Cardiovascular Involvement

scholarly journals Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

2021 ◽  
Vol 22 (11) ◽  
pp. 5538
Author(s):  
Stefania Zampieri ◽  
Silvia Cattarossi ◽  
Eleonora Pavan ◽  
Antonio Barbato ◽  
Agata Fiumara ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Molecular Diagnosis ◽  
Gaucher Disease ◽  
Novel Mutation ◽  
Large Deletion ◽  
Clinical Exome Sequencing ◽  
Number Variation ◽  
Long Range Pcr ◽  
Set Up ◽  
Beta Glucosidase

Gaucher disease (GD) is an autosomal recessive lysosomal disorder due to beta-glucosidase gene (GBA) mutations. The molecular diagnosis of GD is complicated by the presence of recombinant alleles originating from a highly homologous pseudogene. Clinical exome sequencing (CES) is a rapid genetic approach for identifying disease-causing mutations. However, copy number variation and recombination events are poorly detected, and further investigations are required to avoid mis-genotyping. The aim of this work was to set-up an integrated strategy for GD patients genotyping using CES as a first-line test. Eight patients diagnosed with GD were analyzed by CES. Five patients were fully genotyped, while three were revealed to be homozygous for mutations that were not confirmed in the parents. Therefore, MLPA (multiplex ligation-dependent probe amplification) and specific long-range PCR were performed, and two recombinant alleles, one of them novel, and one large deletion were identified. Furthermore, an MLPA assay performed in one family resulted in the identification of an additional novel mutation (p.M124V) in a relative, in trans with the known p.N409S mutation. In conclusion, even though CES has become extensively used in clinical practice, our study emphasizes the importance of a comprehensive molecular strategy to provide proper GBA genotyping and genetic counseling.

scholarly journals A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

2020 ◽  
Vol 8 (3) ◽  
Author(s):  
Anna Malekkou ◽  
Ioanna Sevastou ◽  
Gavriella Mavrikiou ◽  
Theodoros Georgiou ◽  
Lluisa Vilageliu ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Gba Gene

Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

2001 ◽  
Vol 27 (2) ◽  
pp. 489-495 ◽  
Author(s):  
M.A. Torralba ◽  
J.I. Pérez-Calvo ◽  
G.M. Pastores ◽  
A. Cenarro ◽  
P. Giraldo ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Identification And Characterization

scholarly journals Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L)

Epilepsia ◽  
2004 ◽  
Vol 45 (9) ◽  
pp. 1154-1157 ◽  
Author(s):  
Mirella Filocamo ◽  
Raffaella Mazzotti ◽  
Marina Stroppiano ◽  
Serena Grossi ◽  
Charlotte Dravet ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Compound Heterozygosity ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

scholarly journals Heterogeneity of Nuclear Lamin A Mutations in Dunnigan-Type Familial Partial Lipodystrophy*

2000 ◽  
Vol 85 (9) ◽  
pp. 3431-3435
Author(s):  
Robert A. Hegele ◽  
Henian Cao ◽  
Carol M. Anderson ◽  
Irene M. Hramiak
Keyword(s):  
Environmental Factors ◽  
Novel Mutation ◽  
Compound Heterozygote ◽  
Lamin A ◽  
Missense Mutations ◽  
Compound Heterozygosity ◽  
Partial Lipodystrophy ◽  
Nuclear Lamin ◽  
Familial Partial Lipodystrophy ◽  
Affected Subject

Abstract We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-type partial lipodystrophy (FPLD) and diabetes in an extended Canadian kindred. We have since sequenced LMNA in five additional Canadian FPLD probands and herein report three new rare missense mutations in LMNA: V440M, R482W, and R584H. One severely affected subject was a compound heterozygote for both V440M and R482Q. The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and not lamin C, is likely to underlie FPLD, as R584H occurs within LMNA sequence that is specific for lamin A; 3) the V440M mutation may not cause lipodystrophy on its own; 4) compound heterozygosity for V440M and R482Q is associated with a relatively more severe FPLD phenotype, but not with complete lipodystrophy; and 5) variation in the severity of the phenotype might be related to environmental factors.

scholarly journals A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Zahra Alsahlawi ◽  
Mohamed Jailani ◽  
Husain Alaradi ◽  
Abdulaziz AlAbbad
Keyword(s):  
Intellectual Disability ◽  
Novel Mutation ◽  
Skin Infections ◽  
Loss Of Function ◽  
Genetic Condition ◽  
Dysmorphic Features ◽  
Night Terrors ◽  
Behavioral Abnormalities ◽  
New Findings ◽  
Bulbous Nasal Tip

DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. In this case report, we describe the clinical features and genotype of a patient with a novel mutation 1346C > A in WAC. This patient’s dysmorphic features include a prominent forehead, bulbous nasal tip, macroglossia, deep-set eyes, and malar hypoplasia. This patient also showed signs of intellectual disability and behavioral abnormalities such as night terrors. These findings are consistent with those described in earlier reports. Here, we report new findings of epilepsy and recurrent skin infections which had not been reported in prior studies.

Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy

2021 ◽  
pp. 1-6
Author(s):  
K. Oatmen ◽  
S. Camelo-Piragua ◽  
N. Zaghloul
Keyword(s):  
Muscle Biopsy ◽  
Progressive Disease ◽  
Novel Mutation ◽  
Case Reports ◽  
Muscle Disorders ◽  
Dysmorphic Features ◽  
Heterozygous Variant ◽  
Myosin Heavy Chain Genes ◽  
Term Baby ◽  
Unusual Phenotype

INTRODUCTION: Hereditary myosin myopathies are muscle disorders caused by mutations in myosin heavy chain genes. The MYH2 gene encodes the fast 2A skeletal muscle isoform, and mutations manifest as joint contractures, muscle weakness, and external ophthalmoplegia. Muscle biopsy shows decreased type 2A fibers, and vacuoles are sometimes present in adults with progressive disease. PRESENTATION OF CASE: This case describes a full term baby boy with hypotonia, dysmorphic features, dysphagia, and aspiration. Whole genome sequencing detected a novel heterozygous variant in the MYH2 gene. Muscle biopsy showed decreased type 2A fibers and vacuoles in myofibers. DISCUSSION: Hypotonia and dysphagia are common in infants with a MYH2 myopathy. However, dysmorphic features and vacuoles on biopsy have not previous been described in infants with MYH2 myopathies. CONCLUSION: This case reports an unusual phenotype of a rare neonatal-onset congenital myopathy associated with a novel heterozygous variant in MYH2.

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