ZBTB40

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.

Changes in the ZBTB40 gene were identified in two related UDN participants. One is a female, age 7, with childhood-onset chronic constipation, loss of bladder and bowel control (urinary incontinence and encopresis), and mild global developmental delay (read full description). The other participant is her mother, age 38, with severe dysfunction of the autonomic nervous system (dysautonomia), sudden drops in blood pressure (vasovagal syncope), and loss of bladder control (neurogenic bladder) (read full description).

Date of Report

Apr 07, 2022

Full Name

zinc finger and BTB domain containing 40

Location

Chromosome 1 (1p36.12)

Function

The function of this gene is not well characterized; however, it is expressed in the bone and associated with both hip bone and spine bone mineral density (Styrkarsdottir et al. 2008).

Database Links

GeneCards: GC01P022428

NCBI Gene: 9923

OMIM: 612106

UniProtKB/Swiss-Prot: Q9NUA8

Clinical Significance

Changes in this gene were identified in two related UDN participants.

Participant 197, a 7-year-old female with childhood-onset chronic constipation, loss of bladder and bowel control (urinary incontinence and encopresis), and mild global developmental delay was found to carry the following genetic changes in the ZBTB40 gene:

c.2276G>A/p.Arg759Gln (inheritance pattern: unknown, position: chr1:g.22838442G>A, transcript: NM_001083621.1)
c.22C>T/p.Arg8Trp (inheritance pattern: unknown, position: chr1:g.22816463C>T, transcript: NM_001083621.1)

Research is underway to see if these changes are causing symptoms in this participant.

Participant 200, a 38-year-old female with severe dysfunction of the autonomic nervous system (dysautonomia), sudden drops in blood pressure (vasovagal syncope), and loss of bladder control (neurogenic bladder) was found to carry the following genetic change in the ZBTB40 gene:

c.2276G>A/p.Arg759Gln (inheritance pattern: unknown, position: chr1:g.22838442G>A, transcript: NM_001083621.1)

Research is underway to see if this change is causing symptoms in this participant.

Gene ZBTB40

Inheritance Pattern see gene page

Position (hg19) see gene page

Transcript see gene page

DNA Change see gene page

Protein Change see gene page

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