FBN1

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 this gene was identified in a female, age 10 with a tall and slender build (marfanoid habitus), seizures, IgA deficiency, and GI issues (gastrointestinal dysmotility) (read full description).

Date of Report

Nov 05, 2018

Full Name

fibrillin 1

Location

Chromosome 15q21.1

Function

The FBN1 gene codes for a protein involved in connective tissue distribution throughout the body (Sakai et al. 1986).

Database Links

GeneCards: FBN1

MedlinePlus Genetics: FBN1

NCBI Gene: 2200

OMIM: 134797

UniProtKB/Swiss-Prot: P35555

Clinical Significance

A maternally inherited 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 FBN1

Inheritance Pattern Autosomal dominant

Position (hg19) chr15:g.48766755C>T

Transcript NM_000138.4

DNA Change c.4057G>A

Protein Change p.Gly1353Arg

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