ReviewJournal of genetic counseling2014
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
Review in Journal of genetic counseling, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies.Frontiers in medicine · 2025Article
- Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.Molecular cytogenetics · 2023Article
- Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay.Clinical case reports · 2022Article
- Identification of the first congenital ichthyosis case caused by a homozygous deletion in theFrontiers in genetics · 2022Article
- Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in theFrontiers in genetics · 2022Article
- Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report.Molecular cytogenetics · 2021Article
- Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.Molecular biology reports · 2021Article
- POLG mutations presenting as Charcot-Marie-Tooth disease.Journal of the peripheral nervous system : JPNS · 2019Article
- Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.American journal of medical genetics. Part A · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Uniparental disomy is a genetic cause of disease that may result in the inheritance of an autosomal recessive condition. A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing identified an isolated deficiency of beta-galactosidase. Subsequently, homozygous missense mutations in the galactosidase, beta 1 (GLB1) gene on chromosome 3 were found. Parental testing confirmed inheritance of two copies of the same mutated maternal GLB1 gene, and no paternal copy. SNP analysis was also done to confirm paternity. The patient was ultimately diagnosed with autosomal recessive GM1 gangliosidosis caused by maternal uniparental isodisomy. We provide a review of this patient and others in which uniparental disomy (UPD) of a non-imprinted chromosome unexpectedly caused an autosomal recessive condition. This is the first case of GM1 gangliosidosis reported in the literature to have been caused by UPD. It is important for genetic counselors and other health care providers to be aware of the possibility of autosomal recessive disease caused by UPD. UPD as a cause of autosomal recessive disease drastically changes the recurrence risk for families, and discussions surrounding UPD can be complex. Working with families to understand UPD when it occurs requires a secure and trusting counselor-family relationship.
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