KIAA1109

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.

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A change in the KIAA1109 gene was identified in a male, age 9, with seizures, developmental delay, and enlarged ears (macrotia) (read full description).

Date of Report

Mar 03, 2022

Full Name

Tweek

Location

Chromosome 4 (4q27)

Function

The KIAA1109 gene regulates the Nwk (FCHSD2)-dependent pathway and phosphatidylinositol 4,5-bisphosphate pathway and Wsp-dependent pathway. This regulation controls the growth of synapses at neuromuscular junctions (Khuong et al., 2010).

Database Links

GeneCards: KIAA1109

NCBI Gene: 84162

OMIM: 611565

UniProtKB/Swiss-Prot: Q2LD37

Clinical Significance

A 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 KIAA1109

Inheritance Pattern Unknown

Position (hg19) chr4:g.123229253C>G

Transcript NM_015312.3

DNA Change c.9991C>G

Protein Change p.Leu3331Val

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