SRCAP

On this page, you will find information about a genetic change that was identified in a UDN participant.

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Date of Report

Dec 22, 2016

Full Name

Snf2 related CREBBP activator protein

Location
Chromosome 16 (16p11.2)


Function

The SRCAP gene codes for a protein that helps to activate a gene called CREBBP. The protein produced from the CREBBP gene plays a role in regulating cell growth and division (Genetics Home Reference).

Database Links

GeneCards: GC16P030700

Genetics Home Reference: SRCAP gene

NCBI Gene: 10847

OMIM: 611421

UniProtKB/Swiss-Prot: Q6ZRS2

Clinical Significance

Changes in the SRCAP gene have been found in individuals with Floating Harbor syndrome.

A change in the SRCAP gene was also identified in UDN participant with features of this condition.

The participant, a 8 year old male was found to carry the following genetic change in the SRCAP gene: c.7303C>T/p.R2435X.

Gene SRCAP
Inheritance Pattern Autosomal dominant
Position chr16: 30748664
Transcript NM_006662
DNA Change c.7303C>T
Protein Change p.R2435X

During the pregnancy with the patient, the patient’s mother had to use Levoxyl for Hashimoto’s thyroiditis. When the patient was born, the umbilical cord was wrapped around his neck and the placenta could not be delivered. He proceeded to spend 7 days in the NICU for feeding issues.

The patient has continued to have feeding issues and suffers from acid reflux, feeding aversions, vomiting, and constipation. His bone age is also delayed by about 3 years and he started growth hormone at age 7. He also has chronic ear infections and sleep apnea.

Developmentally, the patient has some delays. He has an individualized education program (IEP) and receives vision, speech, feeding, physical and occupational therapy.

Some of his other features include:

  • Decreased body weight
  • Short stature
  • Decreased muscle tone (muscular hypotonia)
  • Joint flexibility (hypermobility)
  • Excessive sweating (hyperhidrosis)
  • Small pituitary gland
  • Deeply set eyes
  • Long eyelashes
  • Involuntary eye movement (nystagmus)
  • Farsighted (hyperopic) astigmatism
  • Persistent pupillary membrane
  • Eye turns outward (exotropia)
  • Posteriorly rotated ears
  • Underfolded helix
  • Small jaw (mild micrognathia)
  • Cleft palate
  • Misaligned teeth (dental malocclusion)
  • Split (bifid) uvula
  • Heart defect (left aortic arch with retroesophageal right subclavian artery)
  • Prominent fingertip pads
  • Broad fingertips
  • Three bones in thumbs instead of two (triphalangeal thumbs)
  • Bent 5th finger (clinodactyly)
  • Kidney (renal) cyst
  • Hypospadias
  • Blood in urine (hematuria)
  • Narrowing of the urethra (urethral stenosis)
  • Knee pain (arthralgia)
  • Small (aplastic/hypoplastic) toenails
  • Prominent digit pads
  • Broad 1st toe
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