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 of participants who give explicit consent will appear here.)

Does this patient sound like someone you know?
Date of Report December 22, 2016
Full Gene Name Snf2 related CREBBP activator protein
Location Chromosome 16 (16p11.2)

Click to enlarge ideogram in new window (generated using the NCBI Genome Decoration Page )
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 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 a UDN participant with features of this condition.

The participant, an 8-year-old male, was found to carry the following genetic change in the SRCAP gene: c.7303C>T/p.R2435X.
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
SRCAP Autosomal dominant chr16: 30748664 NM_006662 c.7303C>T 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
  • Contact
    Do you think this profile matches someone you know? Contact us via email or phone.

    Email: UDN@hms.harvard.edu
    Phone: 1 844 Ring UDN (1 844 746 4836)