Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 ◽  
Vol 39 (2) ◽  
pp. 184-185
Author(s):  
Yo Niida ◽  
Ayano Yokoi ◽  
Mondo Kuroda ◽  
Yusuke Mitani ◽  
Hiroyasu Nakagawa ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Ceroid Lipofuscinosis ◽  
Recessive Mutations

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 ◽  
Vol 39 (2) ◽  
pp. 182-183 ◽  
Author(s):  
Lorena Travaglini ◽  
Chiara Aiello ◽  
Viola Alesi ◽  
Sara Loddo ◽  
Antonio Novelli ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Ceroid Lipofuscinosis ◽  
Recessive Mutations

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

Genomics ◽  
1991 ◽  
Vol 9 (1) ◽  
pp. 170-173 ◽  
Author(s):  
Irma Järvelä ◽  
Johanna Schleutker ◽  
Leena Haataja ◽  
Pirkko Santavuori ◽  
Lea Puhakka ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Chromosome 1 ◽  
Infantile Form ◽  
Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

2014 ◽  
Vol 14 (8) ◽  
pp. 1043-1051 ◽  
Author(s):  
A. Simonati ◽  
F. Pezzini ◽  
F. Moro ◽  
F.M. Santorelli
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Celeste Sassi ◽  
Rosa Capozzo ◽  
Monia Hammer ◽  
Chiara Zecca ◽  
Monica Federoff ◽  
...  
Keyword(s):  
Late Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Primary Progressive Aphasia ◽  
Complex Spectrum ◽  
Site Mutation ◽  
Progressive Aphasia ◽  
Pathogenic Mechanisms ◽  
Primary Progressive ◽  
Ceroid Lipofuscinosis ◽  
Sporadic Cases

AbstractFrontotemporal dementia (FTD) refers to a complex spectrum of clinically and genetically heterogeneous disorders. Although fully penetrant mutations in several genes have been identified and can explain the pathogenic mechanisms underlying a great portion of the Mendelian forms of the disease, still a significant number of families and sporadic cases remains genetically unsolved. We performed whole exome sequencing in 100 patients with a late-onset and heterogeneous FTD-like clinical phenotype from Apulia and screened mendelian dementia and neuronal ceroid lipofuscinosis genes. We identified a nonsense mutation in SORL1 VPS domain (p.R744X), in 2 siblings displaying AD with severe language problems and primary progressive aphasia and a near splice-site mutation in CLCN6 (p.S116P) segregating with an heterogeneous phenotype, ranging from behavioural FTD to FTD with memory onset and to the logopenic variant of primary progressive aphasia in one family. Moreover 2 sporadic cases with behavioural FTD carried heterozygous mutations in the CSF1R Tyrosin kinase flanking regions (p.E573K and p.R549H). By contrast, only a minority of patients carried pathogenic C9orf72 repeat expansions (1%) and likely moderately pathogenic variants in GRN (p.C105Y, p.C389fs and p.C139R) (3%). In concert with recent studies, our findings support a common pathogenic mechanisms between FTD and neuronal ceroid lipofuscinosis and suggests that neuronal ceroid lipofuscinosis genes should be investigated also in dementia patients with predominant frontal symptoms and language impairments.

scholarly journals Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lili Zhou ◽  
Zhaoke Zheng ◽  
Yunzhi Xu ◽  
Xiaoxiao Lv ◽  
Chenyang Xu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Correct Diagnosis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rescue Mechanism

Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.

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