New syndromes april - may

New Rare Syndromes: April-May

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New syndromes april - may

New syndrome of intellectual disability with severe speech impairment and behavioural problems caused by mutations of DEAF1

The authors identified four individuals with a new syndrome of intellectual disability with severely affected speech development and behavioural problems caused by de novo mutations in DEAF1.

PubMed

Novel syndrome of intellectual disability with hypotonia and sleep apnea associated with AHDC1 de novo truncating mutations

The authors described a novel syndrome of intellectual disability with hypotonia, global developmental delay, mildly dysmorphic features and sleep apnea associated with AHDC1 de novo truncating mutations.

PubMed

Neurological diseases: CLP1 mutations alter tRNA biogenesis, splicing and maturation affecting cerebellar development, and both peripheral and central nervous system function

In two articles, CLP1 mutations were identified in several individuals leading to neurological diseases characterized by severe motor-sensory defects, cortical dysgenesis and microcephaly.

PubMed

New neurodegenerative disorder with dementia and/or parkinsonism linked to PRKAR1B heterozygous missense mutation

The authors described a family with a novel late-onset neurodegenerative disorder presenting with dementia and/or parkinsonism in 12 affected individuals. They identified a heterozygous missense mutation in PRKAR1B associated to that disorder.

PubMed

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

The authors identified three unrelated patients with heterozygous deletions encompassing 13q12.3 (HMGB1 andKATNAL1 genes). The patients presented with moderate demonstrated or apparent intellectual disability, postnatal microcephaly and eczema/atopic dermatitis as predominant symptoms. They also had pronounced feeding difficulties in early infancy and similar facial features.

PubMed

Delay in the acquisition of motor and language skills in three families could be due to FRA2A expression, a CCG repeat expansion associated with silencing of AFF3

The authors studied three families with FRA2A expression at 2q11 associated with a wide spectrum of neurodevelopmental phenotypes. Their data suggested that there may be an association between FRA2A and a delay in the acquisition of motor and language skills in the families studied.

PubMed

Source: Orphanews Europe

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