Rocio Moran

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BACKGROUND A 22-year-old woman was referred to a genomic medicine clinic for evaluation of suspected Prader-Willi syndrome (PWS) after normal DNA methylation studies on chromosome 15 were obtained. Features suggestive of PWS included mental retardation, short stature, obesity, hypotonia, and small hands and feet. The patient, however, lacked many(More)
KIF1A is a neuron-specific motor protein that plays important roles in cargo transport along neurites. Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type-2. Here, we report 11 heterozygous de novo missense mutations (p.S58L, p.T99M, p.G102D, p.V144F, p.R167C, p.A202P, p.S215R,(More)
Mutations in the smooth muscle-specific isoform of α-actin (ACTA2) cause vascular smooth muscle dysfunction leading to aortic aneurysm and moyamoya syndrome. A unique R179H mutation in ACTA2 has been reported to result in widespread smooth muscle dysfunction affecting vascular and extravascular smooth muscles. We report a 7-year-old girl with an ACTA2 R179H(More)
Dysfunctional breathing is characterised by an abnormal breathing pattern leading to respiratory symptoms. The 25-item Self Evaluation of Breathing Questionnaire (SEBQ) has been developed to measure breathing-related symptoms and their severity but lacks thorough evaluation. To determine reproducibility, internal consistency and predictors of SEBQ score,(More)
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