A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

doi:10.1016/j.ejmg.2017.05.003

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Article

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

European journal of medical genetics - 1 Aug 2017

Cao Yang, AlHumaidi Susan S, Faqeih Eissa A, Pitel Beth A, Lundquist Patrick, Aypar Umut

Abstract excerpt

Here we report the smallest deletion involving SNURF/SNRPN that causes major symptoms of Prader-Willi syndrome (PWS), including hypotonia, dysmorphic features, intellectual disability, and obesity. A female patient with the aforementioned and additional features was referred to the Mayo Clinic Cytogenetics laboratory for genetic testing. Chromosomal microarray analysis and subsequent Sanger sequencing identified...

Topics

Child
DNA Methylation
Exons
Female
Gene Deletion
Genomic Imprinting
Humans
Nuclear Proteins
Phenotype
Prader-Willi Syndrome
RNA, Small Nucleolar

Source

Open in PubMed

Identifiers

PMID: 28554868
DOI: 10.1016/j.ejmg.2017.05.003

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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