SMARCC2

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

Nov 30, 2017

Full Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2

Location
Chromosome 12 (12q13.2)


Function

The SMARCC2 gene is involved in chromatin remodeling (Wang et al., 1996).

Database Links

GeneCards:  GC12M056161

NCBI Gene: 6601

OMIM: 601734

UniProtKB/Swiss-Prot: Q8TAQ2

Clinical Significance

A change in the SMARCC2 gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.

The participant, a 11-year-old male with intellectual disability, absent speech, and very happy disposition was found to carry the following genetic change in the SMARCC2 gene: c.1833+1G>T.

Gene SMARCC2
Inheritance Pattern Autosomal dominant
Position Chr12: 56566211
Transcript NM_003075
DNA Change c.1833+1G>T
Protein Change N/A

At 11 months old, the participant’s parents noticed that he was delayed developmentally and was unable to sit up on his own. He began walking with a walker at age 3. He was evaluated by neurology and received a brain MRI that showed an abnormality of brain white matter (periventricular leukomalacia). However, follow-up brain MRIs have been normal.

At age 8, the patient started to be able to feed himself using a pincher grasp. Currently he is nonverbal and uninterested in signing or using a communication device.

Overall, he is a very pleasant and happy child and has never developed stranger anxiety.  His demeanor is reminiscent of Angelman syndrome, but his other symptoms do not fit with this condition.

Some of his other features include:

  • Agitation
  • Repetitive behaviors (stereotypic behavior)
  • Delayed cranial suture closure
  • Loss of skin color (generalized hypopigmentation)
  • Downslanted eyes (downslanted palpebral fissures)
  • Eyes turned outward (exotropia)
  • Increased distance between eyes (hypertelorism)
  • Abnormal tear production (alacrima)
  • Thin upper lip (thin vermilion border)
  • Broad length between end of nose and top of lip (broad philtrum)
  • Large ear (macrotia)
  • Recurrent hand flapping
  • Tissue bulge in abdomen (inguinal hernia)
  • Decreased tone (muscular hypotonia)
  • Constipation
  • Abnormal walking (broad-based gait)
  • Toes fused together (2-3 toe syndactyly)
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