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.)

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Date of Report July 1, 2016
Full Gene Name Nucleus accumbens associated 1
Location Chromosome 19 (19p13.2)
Ideogram: NACC1 gene on chromosome 19

Click to enlarge ideogram in new window (generated using the NCBI Genome Decoration Page )
Function The NACC1 gene codes for a protein involved in transcriptional repression (Korutla et al., 2002 ).
Database Links GeneCards: GC19P013117 NCBI Gene: 112939 OMIM: 610672 UniProtKB/Swiss-Prot: Q96RE7
Clinical Significance A change in the NACC1 gene was identified in a UDN participant and other patients with similar symptoms (Schoch et al, 2017 ).
The participant, a 20 month old male with seizures, cataracts, a small head size (microcephaly), and global developmental delay was found to carry the following de novo genetic variant in the NACC1 gene: c.892C>T/p.R298W.
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
NACC1 unknown Chr19: 13246913 NM_052876.3 c.892C>T p.R298W
p.Arg298Trp
During the first few months of life, the patient was noticed to have slow growth and developmental delay. He was not visually tracking, focusing on faces, or responding to some sounds. At 8 months, he was found to have cataracts in both eyes and was diagnosed with infantile spasms. A brain MRI showed mild delays in myelination and mildly decreased brain volume with slightly large ventricles. The patient’s parents also report that when he gets angry or upset, like when trying to urinate or have a bowel movement, he will hold his breath, turn blue, and pass out.

Some of his other features include:

  • Poor weight gain (failure to thrive)
  • Seizures (infantile spasms, generalized myoclonic seizures)
  • Tremors
  • Breath-holding spells (cyanotic breath-holding spells)
  • Small head size (microcephaly)
  • Wide head shape (brachycephaly)
  • Visual impairment (cortical)
  • Deep set eyes
  • Prominent cheekbones
  • Possible mild hearing loss
  • Difficulty swallowing (oral-pharyngeal dysphagia)
  • Sleep apnea (central)
  • Abnormal breathing (breathing dysregulation)
  • Acid reflux disease (gastroesophageal reflux)
  • Difficulty urinating
  • Funnel chest (pectus excavatum)
  • Exaggerated cupid’s bow
  • Thick eyebrows
  • Long eyelashes
  • Flat bridge of nose (depressed nasal bridge)
  • Short neck
  • Single crease on palms (single transverse palmar crease bilaterally)
  • Curvature of pinky fingers (clinodactyly of 5th finger bilaterally)
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