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Participant 147


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Male, age 16 with Au-Kline syndrome caused by a change in the HNRNPK gene

Date of Report

Oct 07, 2019

Description

The participant was first seen in a genetics clinic at 11 months old because of facial differences (high arched eyebrow, abnormal face shape) and skull differences (metopic craniosynostosis). He was found to have some other physical differences such as one eye turned inward (esotropia), palate abnormalities, split uvula (bifid uvula) and webbed fingers (syndactyly). In addition, he has been noted to have curvature of the spine (kyphosis) and low muscle tone (hypotonia). In the past he had feeding difficulties which caused frequent vomiting. He also has poor balance and coordination which have caused many incidences of falls throughout his life.

The participant has had frequent and prolonged illnesses including ear infections. These have been treated with intravenous immunoglobulin (IVIG). He has also been diagnosed with autism, attention deficit hyperactive disorder (ADHD) and obsessive compulsive disorder (OCD). His parents have also noticed that he has an intolerance of heat and a high pain tolerance.

Symptoms / Signs
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Skull differences (trigonocephaly/metopic craniosynostosis)
  • Facial differences (abnormal facial shape, low anterior hairline, long eyelashes, highly arched eyebrow)
  • Drooping eyelids (ptosis)
  • Eye turned inward (esotropia)
  • Hearing impairment
  • Recurrent ear infections (otitis media)
  • Palate abnormalities (cleft soft palate, velopharyngeal insufficiency)
  • Split uvula (bifid uvula)
  • Dental crowding
  • Persistence of primary teeth
  • Hand differences (3-4 finger syndactyly, short 1st metacarpal, short 5th metacarpal)
  • Prominent fingertip pads
  • Flat feet (pes planus)
  • Overeating (polyphagia)
  • Gastroesophageal reflux
  • Constipation
  • Undescended testes (cryptorchidism)
  • Abnormal curvature of the spine (kyphosis)
  • Low muscle tone (generalized hypotonia)
  • Wide-based walking (broad-based gait)
  • Asthma
  • Chronic cough
  • Recurrent infections
  • Obsessive compulsive disorder (OCD)
  • Attention deficit hyperactive disorder (ADHD)
  • Behavioral problems
Current Treatments
  • Ankle-foot orthosis (AFO) – poor balance and coordination
  • Augmentative and alternative communication (AAC)
  • Behavioral, occupational, physical and speech therapy
  • Intravenous immunoglobulin (IVIG) – recurrent infections
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • 22q11.2 deletion syndrome
  • Fragile X syndrome
  • Kabuki syndrome
  • Microdeletion/duplication syndrome
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr9:86591920
NM_002140.3
c.203T>G
p.Leu68Arg
Contact

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