ZBTB24

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.

Date of Report

Apr 25, 2016

Full Name

Zinc finger and BTB domain containing 24

Location
Chromosome 6 (6q21)


Function

The ZBTB24 gene codes for a protein that seems to be involved in DNA methylation of juxtacentromeric DNA during B-cell development (de Greef et al., 2011 ).

Database Links

GeneCards: GC06M109462

Genetics Home Reference: ZBTB24 gene

NCBI Gene: 9841

OMIM: 614064

UniProtKB/Swiss-Prot: O43167

Clinical Significance

A change in the ZBTB24 gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.

The participant, a 2-year-old Caucasian female with an undiagnosed condition, was found to carry a single copy of the following genetic variant in the ZBTB24 gene: c.452C>G/p.S151C. A second variant was not detected, as expected for autosomal recessive inheritance.

Gene ZBTB24
Inheritance Pattern autosomal recessive
Position chr6:109802778
Transcript NM_014797.2
DNA Change c.452C>G
Protein Change p.S151C p.Ser151Cys

Patient only has one variant

After birth, the patient was found to be missing a thyroid (absent thyroid). She proceeded to have difficulty feeding, which may have been the result of facial paralysis. At 9 months, she was brought to the hospital with swelling around both eyes and a biopsy showed atypical histiocytic cells. Her blood pressure has been consistently elevated and she has had intermittent transaminitis. She has also had several bacterial and fungal infections; raised red plaques on her elbows, chest, and face; and one episode of fingertip peeling, which lasted for 2 months. Recently a muscle biopsy of the thigh showed polymyositis, which has caused atrophy of the pelvis and thighs (proximal muscles) and secondary mitochondrial depletion.

Some of her other features include:

  • Primary immune deficiency (low IGG)
  • Improper closing of soft palate muscle in mouth when speaking (velopharyngeal insufficiency)
  • Elevated hemidiaphragm
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