Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.

ABSTRACT:

Background

Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by sensorineural hearing loss.

Methods

Karyotyping analysis was performed to investigate any chromosomal abnormalities. Whole-genome copy number variation and loss of heterozygosity were analyzed using an Affymetrix CytoScan 750 K Microarray. Variant screening was performed by targeted next-generation sequencing on all known deafness-causing genes.

Results

The proband was a patient with SRS caused by maternal uniparental disomy 7. The PDS of the proband was caused by homozygous variant c.919-2

SUBMITTER: Zhang C 

PROVIDER: S-EPMC7521231 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature