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Participant 190


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Female, age 20, with musculoskeletal and orthopedic anomalies caused by a change in the KIF5B gene.

Date of Report

Nov 16, 2021

Description

The participant was born full-term. During pregnancy, doctors noticed that she had a small head size (microcephaly), poor growth (IUGR), and some skeletal anomalies on an ultrasound. After birth, she had trouble feeding and delayed motor skills. About a month after birth, she had multiple long bone fractures. She was evaluated by genetics and treated for brittle bones. She continued to have bone fractures weekly that would heal normally.

As a child, the participant continued to have multiple fractures after minor trauma. She had low bone density and weak teeth (dentinogenesis imperfecta). She was notably shorter than her peers (short stature). She had a number of orthopedic surgeries in childhood.

As a teenager, she continued to have bone pain and sideways curvature of the spine (scoliosis). She did not have as many fractures, though she continued to have low bone mass. The participant was noted to have dysmorphic facial features. She also had delayed puberty. The participant is otherwise neurodevelopmentally typical and is doing very well academically.

Symptoms / Signs
  • Musculoskeletal anomalies (dentinogenesis imperfecta, bone pain, recurrent fractures, reduced bone mineral density)
  • Loss of bone mass (osteoporosis)
  • Delayed puberty
  • Short stature
  • Craniofacial anomalies (abnormal facial shape, malar flattening, mandibular prognathia, midface retrusion)
  • Incomplete closure of eyelids (lagopthalmos)
  • Missing teeth (tooth agenesis)
  • Hearing impairment
  • Cardiovascular anomalies (atrial septal defect, right ventricular dilatation)
  • Airway obstruction
  • Difficulty breathing (restrictive ventilatory defect)
  • Obstructive sleep apnea
  • Sideways curvature of the spine (scoliosis)
  • Constipation
  • Loss of adipose tissue (lipodystrophy)
  • Low blood cell count (pancytopenia)
  • Chronic hiccupping (recurrent singultus)
Current Treatments
  • Pamidronate (reduced bone density)
Prior Treatments
  • Zoledronic acid (reduced bone density)
  • Biphosphonates (osteoporosis)
Considered treatments
Previously Considered Diagnoses
  • Neonatal progeria
  • Osteogenesis imperfecta
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Autosomal dominant
chr10:g.32329340G>A
NM_004521.2
c.260C>T
p.Thr87Ile
Contact

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

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