New Rare Syndromes: August-September

In Clinical Development by Cameron1 Comment

Early-onset multi-organ autoimmune disease including type 1 diabetes caused by activating germline mutations in STAT3

The authors reported a new monogenic cause of autoimmunity resulting from de novo germline activatingSTAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes.

PubMed

Vascular and pulmonary syndrome with early-onset systemic inflammation associated with gain-of-function mutations in TMEM173

The authors analyzed the DNA of six patients with early-onset systemic inflammation, cutaneous vasculopathy, and pulmonary inflammation. They identified gain-of-function mutations in TMEM173 encoding the stimulator of interferon genes (STING), and called the syndrome STING-associated vasculopathy with onset in infancy (SAVI).

PubMed

New subtype of oral-facial-digital syndrome with severe microcephaly and cerebral malformations due to mutations in C2CD3

The authors uncovered a new subtype of oral-facial-digital syndrome with severe microcephaly and cerebral malformations, and identified distinct mutations in two affected families in the conserved gene C2CD3.

PubMed

Unusual skeletal dysplasia with dysmorphic facial features, epilepsy and developmental delay in a consanguineous Arab family

The authors described a syndrome in which the cardinal clinical features include short stature, hearing loss, premature aging, telangiectasia, neurodegeneration, and photosensitivity, resulting from a homozygous missense PCNA mutation. This neurodegenerative phenotype displayed clinical and molecular features common to other DNA repair disorders.

PubMed

Source: OrphaNews

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