NDLI: Maternal Uniparental Isodisomy Causing Autosomal Recessive GM1 Gangliosidosis: A Clinical Report

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Maternal Uniparental Isodisomy Causing Autosomal Recessive GM1 Gangliosidosis: A Clinical Report

Content Provider	Springer Nature Link
Author	King, Jessica E. Dexter, Amy Gadi, Inder Zvereff, Val Martin, Meaghan Bloom, Miriam Vanderver, Adeline Pizzi, Amy Schmidt, Johanna L.
Copyright Year	2014
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.
Starting Page	734
Ending Page	741
Page Count	8
File Format	PDF
ISSN	10597700
Journal	Journal of Genetic Counseling
Volume Number	23
Issue Number	5
e-ISSN	15733599
Language	English
Publisher	Springer US
Publisher Date	2014-04-30
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Autosomal recessive Uniparental disomy Isodisomy GM1 gangliosidosis GLB1 Human Genetics Public Health Clinical Psychology Gynecology Ethics
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical)

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