Germline mutations in the tumour suppressor gene PTEN have been implicated in two
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-…

We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific
β-tubulin isotype III, result in a spectrum of human nervous system disorders that we now …

Purpose and scope The aim of this Position Statement is to provide recommendations for
Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other …

Objective: To report chronic fatigue syndrome (CFS) associated with both Ehlers-Danlos
syndrome (EDS) and orthostatic intolerance. Study design: Case series of adolescents referred …

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been
reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental …

We report on four families affected by a clinical presentation of complex hereditary spastic
paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three …

Objective To develop a Canadian consensus document on maternal screening for fetal
aneuploidy (eg, Down syndrome and trisomy 18) in singleton pregnancies. Options Pregnancy …

Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders
identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition …

Microcephaly–capillary malformation (MIC-CAP) syndrome is characterized by severe
microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental …

The first two steps in the mammalian lysine-degradation pathway are catalyzed by lysine-ketoglutarate
reductase and saccharopine dehydrogenase, respectively, resulting in the …