04
Aug
14q13 deletion, the NKX2-1 gene and BHC
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Chromosome 14q13 deletion, NKX2-1 deletion or mutation and BNC. The chromosomal segment 14q13 includes several genes, including the NKX2-1 gene. Deletions or mutations of this gene cause benign hereditary chorea (BHC). Manifestations of this disorder, which occurs in childhood, include non-progressive choreic movement, usually without cognitive decline. There are... Read More
11
Oct
14q13 deletion and neurodevelopmental symptoms
Deletions within the chromosome 14q13 region contribute to neurodevelopmental symptoms such as hypotonia and developmental delay. The article discusses two siblings – a boy and a girl – with a unique, familial 2.4 Mb deletion within 14q13.1q14.3. Shared symptoms for both siblings include seizures, developmental delay, hypotonia (low muscle tone),... Read More
