New Rare Syndromes: May-June

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New Syndromes May - June

New syndrome of severe intellectual disability and encephalopathy associated to null mutation in PGAP1

The authors performed homozygosity mapping and exome sequencing in a family with encephalopathy and non-specific autosomal-recessive intellectual disability. They identified a homozygous 3 bp deletion in the PGAP1 gene.

PubMed

Leukoencephalopathy with MRI evidence of hypomyelination due to heterozygous mutations in RARS

The authors used magnetic resonance imaging pattern recognition and whole exome sequencing to ascertain compound heterozygous mutations in RARS in four patients with hypomyelination. Clinical features included severe spasticity and nystagmus.

PubMed

Heterogeneous X-linked dominant neurodegeneration due to UBQLN2 mutation

The authors reported a 5-generation family with phenotypically diverse neurodegenerative disease including relentlessly progressive choreoathetoid movements, dysarthria, dysphagia, spastic paralysis, and behavioural dementia. Disease onset varied with gender, occurring in male children and adult women. Exome sequence analyses revealed a novel mutation in UBQLN2 with X-linked inheritance in all studied affected individuals.

PubMed

Novel form of autosomal recessive intellectual disability with epilepsy and strabismus caused by a defect in the CLIP1 gene in an Iranian family

The authors investigated novel autosomal recessive intellectual disability genes and detected a nonsense mutation in the CLIP1 gene in an Iranian family that also presented with epilepsy and strabismus.

PubMed

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features

The authors described two sisters born to non-consanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. They proposed that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome.

PubMed

A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5

The authors identified a novel sleep disorder in eight patients with abnormal sleep movements and behaviours, as well as obstructive sleep apnoea. All patients had antibodies against IgLON5.

PubMed

New syndromes: April-May 2014

Source: Orphanews Europe

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