Table 1

Summary of the clinical and molecular features of the reported cases with Dysequilibrium Syndrome- VLDLR type
Boycott et al. 2005 [[4]] Moheb et al. 2008 [[8]] Turkman et al. 2008 [[6]] Ozcelik et al. 2008 [[5]] Ozcelik et al. 2008 [[5]] Boycott et al. 2009 [[9]] Kolb et al. 2010 [[13]] This report Family 1 This report Family 2
General
No. of patients 10 8 3 5 3 1 2 4 1
Ethnicity Hutterite Iranian Turkish Turkish Turkish Caucasian Turkish UAE (Omani) UAE (Omani)
Consanguinity + + + + + - + + +
VLDLR mutation Homozygous deletion of entire gene Homozygous c.1342C>T (p.R448X) Homozygous c.2339delT (p.I780TfsX3) Homozygous c.769C.T (p.R257X) Homozygous c.2339delT (p.I780TfsX3) Compound heterozygous c.1561G>C + c.1711-1712dupT (p.D521H + p.Y571LfsX7) Homozygous deletion of exons 2, 3, 4 and parts of exons 1 and 5 Homozygous c.2117G>T (p.C706F) Homozygous c.2117G>T (p.C706F)
Clinical
Mental retardation Moderate-Profound Moderate-Profound Moderate-Profound Profound Profound Developmental Delay Developmental delay Moderate Moderate
Hypotonia in infancy ? ? ? - - + + + +
Ambulation Delayed - Delayed Delayed Delayed Delayed Delayed Delayed Delayed
Gait Bipedal Bipedal Quadrupedal Quadrupedal Quadrupedal Bipedal Bipedal Bipedal Bipedal
Truncal ataxia + ? + + + + + + +
Dysarthric Speech + ? + + + ? + No Speech No Speech
Seizure +/- - ? +/- - - - - -
Strabismus +/- + ? + + - - +/- +
Neuroimaging
Absent inferior vermis + ? + + + + + + +
Hypoplastic inferior-cerebellum + ? + + + + + + +
Simplified cortical gyri + ? + + + + + + +

Ali et al.

Ali et al. BMC Medical Genetics 2012 13:80   doi:10.1186/1471-2350-13-80

Open Data