Anosmia, Isolated Congenital (ANIC)

What is Anosmia, Isolated Congenital (ANIC)?

Two unrelated Iranian families, with congenital anosmia, were reported by Ghadami et al., (2004). Two brothers reported by Karstensen et al., (2015) were found to have X-linked CNGA2 mutations.
Sailani et al., (2017) described six male patients from a family with isolated congenital anosmia due to hemizygous protein-truncating mutation in the CNAG2 gene. All patients had only congenital anosmia.

Syndrome Synonyms

Anosmia - Familial Anosmia, Congenital

What gene changes cause Anosmia, Isolated Congenital (ANIC)?

Genes, locations, and inheritance modes
TENM1, Xq25 - X-Linked Recessive
CNGA2, Xq28 - X-Linked Recessive

What are the main symptoms of Anosmia, Isolated Congenital (ANIC)?

Possible clinical traits/features
Autosomal dominant inheritance, Anosmia

How does someone get tested for Anosmia, Isolated Congenital (ANIC)?

The initial testing for Anosmia, Isolated Congenital syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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