SUN1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the SUN1 gene was identified in a female, age 5 with developmental delay, seizures, congenital cataracts, hearing loss, swallowing difficulty, atrial septal defect, repetitive behaviors (stereotypy), low blood platelet levels (thrombocytopenia), anemia, and a blueberry muffin rash identified at birth (read full description).

Date of Report

Aug 20, 2018

Full Name

Sad1 and UNC84 domain containing 1

Location

Chromosome 7p22.3

Function

The SUN1 gene codes for a protein that is part of the inner nuclear membrane (Haque et al. 2010).

Database Links

GeneCards: SUN1

NCBI Gene: 23353

OMIM: 607723

UniProtKB/Swiss-Prot: O94901

Clinical Significance

A homozygous change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene SUN1

Inheritance Pattern Autosomal recessive

Position (hg19) chr7:g.909029del

Transcript NM_001130965.2

DNA Change c.2024delA

Protein Change p.Gln675ArgfsTer6

Contact Us

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