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Participant 127


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Male, age 4 with Roifman syndrome caused by changes in the RNU4ATAC gene

Date of Report

May 08, 2019

Description

The participant was born at 37 weeks weighing 3lbs 13oz. He spent 19 days in the NICU due to feeding difficulties. He began to experience recurrent upper and lower respiratory tract infections at 6 months and was later identified to have abnormal movement of the cilia (abnormal ciliary motility), upper airway obstruction, and asthma. He continued to have feeding difficulties and trouble growing (failure to thrive), which were complicated by episodic vomiting.

The participant experienced a seizure (generalized tonic-clonic) at 1 and a subsequent MRI showed brain abnormalities (ventriculomegaly, diffuse white matter volume loss). Currently he has global developmental delay, low muscle tone (muscular hypotonia), gastroesophageal reflux, and delayed gastric emptying (gastroparesis). Through the UDN he was diagnosed with Roifman syndrome caused by changes in the RNU4ATAC gene.

Symptoms / Signs
  • Difficulty growing (failure to thrive, intrauterine growth retardation)
  • Global developmental delay
  • Seizures (generalized tonic-clonic seizures)
  • Brain abnormalities (ventriculomegaly, diffuse white matter volume loss)
  • Low muscle tone (muscular hypotonia)
  • Recurrent upper and lower respiratory tract infections
  • Asthma
  • Upper airway obstruction
  • Abnormal movement of the cilia (abnormal ciliary motility)
  • Episodic vomiting
  • Feeding difficulties
  • Delayed gastric emptying (gastroparesis)
  • Gastroesophageal reflux
  • Inflammation of stomach mucous membrane (gastritis)
  • Small head size (microcephaly)
  • Backward rotation of ears (posteriorly rotated ears)
  • Low-set ears
Current Treatments
  • Albuterol, shaky vest – lung function
  • IVIG treatments
  • Pulmicort – asthma
  • Ranitidine – episodic vomiting
  • Speech, occupational, and physical therapy
  • Supra-malleolar orthosis (SMOs) – walking
Prior Treatments
  • Keppra – seizures
  • Omeprazole – gastroesophageal reflux
Considered treatments
Previously Considered Diagnoses
  • Metabolic condition
  • Microduplication/deletion syndrome
  • Mitochondrial condition
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal recessive
Chr2:122288468 & Chr2:122288503
NR_023343
n.13C>T & n.48G>A
N/A
Contact

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