2016
DOI: 10.1186/s12883-016-0649-5
|View full text |Cite
|
Sign up to set email alerts
|

An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family

Abstract: BackgroundNiemann-Pick disease type C (NP-C) is a fatal lysosomal neurodegenerative and neurovisceral disease. It is caused by defects in intracellular lipid trafficking, which lead to the accumulation of lipids and glycosphingolipids within the endosomes and lysosomes of affected individuals. Pathogenic variants of the NPC1 or NPC2 genes yield highly variable phenotypes with a time course that ranges from fetal onset (i.e., hydrops fetalis) to progressive dementia in adults. NP-C is typically inherited in an … Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1

Citation Types

0
2
0

Year Published

2017
2017
2024
2024

Publication Types

Select...
5

Relationship

0
5

Authors

Journals

citations
Cited by 5 publications
(2 citation statements)
references
References 17 publications
0
2
0
Order By: Relevance
“…In NP-C cohorts from the UK, Europe and Australia, 22-38% of cases were related [6,7,32]. However, the high proportion of NP-C patients with compound heterozygote genotypes makes the study of genotype-phenotype correlations challenging [39,40,41]. NP-C symptoms can vary widely among family members, even in those with identical genetic mutations.…”
Section: Familial Aspects and Ancestrymentioning
confidence: 99%
“…In NP-C cohorts from the UK, Europe and Australia, 22-38% of cases were related [6,7,32]. However, the high proportion of NP-C patients with compound heterozygote genotypes makes the study of genotype-phenotype correlations challenging [39,40,41]. NP-C symptoms can vary widely among family members, even in those with identical genetic mutations.…”
Section: Familial Aspects and Ancestrymentioning
confidence: 99%
“…This is the reason why germline mosaicism has been much less reported in autosomal recessive diseases than in autosomal dominant diseases. 5,6 In addition to having major clinical implication in assessing recurrence risk of future pregnancies in such families, this scenario has other implication as interest grows in the use of carrier screening in reproductive medicine. When a pathological recessive allele is detected in only one partner, couples will be told that the recurrence risk for the offspring is almost none.…”
mentioning
confidence: 99%