The authors identified six individuals from three unrelated families with a founder homozygous splice mutation in TRAPPC6B. Patients manifested a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features, and showed splicing defect.
The authors reported the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability. This syndrome seems to be caused by a homozygous variant in PLCB3.
The authors aimed to explore further biomarkers of manganese deposition in the central nervous system in two siblings presenting with hypermanganesemia due to mutations in SLC39A14. The two siblings presented at the age of 10 months with acute dystonia and motor regression.
The authors provided evidence from 5 affected subjects that mutations in SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia. Their phenotype strikingly diverged from all 17 SERAC1 cases reported.
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardised format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counselling of patients and families with specific inherited conditions.
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Six updated GeneReviews have been published for: