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Participant 053


TRIP12
On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

 

Male, age 8, with autism with facial dysmorphology caused by a change in the TRIP12 gene

Date of Report

Feb 15, 2018

Description

The participant had growth delay before and after birth, and was referred to genetics by his primary care provider at the age of 3 due to concerns of developmental delay and autism. Currently he is receiving behavioral therapy. He also has distinctive facial features, including full cheeks, downturned corners of the mouth, narrow forehead, and short distance between the nose and lip (philtrum). He also has significant drooling and constipation.

Symptoms / Signs
  • Short stature
  • Autistic behavior
  • Global developmental delay
  • Intellectual disability
  • Overactive reflexes (hyperreflexia)
  • Narrow forehead
  • Deeply set eye
  • Vision impairment
  • Full cheeks
  • Depressed nasal bridge
  • Short distance between nose and lip (short philtrum)
  • Thick lip (thick vermilion border)
  • U-shaped upper lip (u-shaped upper lip vermilion)
  • Widely spaced teeth
  • Drooling
  • Downturned corners of mouth
  • Small jaw (micrognathia)
  • Abdominal pain
  • Poor appetite
  • Constipation
  • Bowel obstruction (meconium ileus)
  • Scrotum surrounds penis (shawl scrotum)
  • Curved toes (clinodactyly of the 4th and 5thtoe)
  • Broad end of digits and prominent finger pads
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Aarskog syndrome
  • Angelman syndrome
  • Alpha-thalassemia mental retardation syndrome
  • Cystic fibrosis
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Pitt-Hopkins syndrome
  • Rett syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the patient’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
TRIP12
Autosomal dominant
chr2:g.230695548del
NM_001284214.1
c.1279delT
p.Ser427LeufsTer8
Contact

If this participant sounds like you or someone you know, please contact us!

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