DUPLICATION OF CHROMOSOME 16p13.11-p12.3
WITH DIFFERENT EXPRESSIONS IN THE SAME FAMILY
Pop-Jordanova N1,*, Zorcec T2, Sukarova-Angelovska E2, 3
*Corresponding Author: Professor Nadica Pop-Jardonica, Department of Medicine, Research Centre
for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences
and Arts, Bul. Krste Misirkov 2, 1000 Skopje, Republic of North Macedonia. Tel.: +389-2-32-35-400.
Fax: +389-2-32-35-423. E-mail: popjordanova.nadica@gmail.com
page: 89
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INTRODUCTION
Autism spectrum disorder (ASD) or autism, is a condition
that appears early in childhood development, varies
in severity, and is characterized by impaired social skills,
communication problems and repetitive behaviors. These
difficulties can interfere with affected individuals’ ability to
function in social, academic and employment settings [1].
Children with ASD also have an increased risk of psychiatric
difficulties such as anxiety, depression, obsessive compulsive
disorder and eating disorders, later in the life. In the last
decade the prevalence of this condition has been increased,
and it is being referred to as an epidemic. The etiology is
assumed to be a combination of genetic and environmental
factors. However, for the further development of the child,
it is very important to make the diagnosis as early as possible
and to include different available therapies. Prenatal
diagnosis for autism is unfortunately not yet possible.
Autism and intellectual impairment are often associated,
suggesting that these conditions are etiologically related.
Recently, array comparative genomic hybridization (aCGH)
has identified sub microscopic deletions and duplications as
a common cause of intellectual impairment, prompting us
to also search for such genomic imbalances in autism [2].
Currently, the knowledge about genetic involvement
in neurodevelopmental disorders is rising. To date, more
than 100 gene mutations related to autistic syndromes have
been described. Some disorders that affect multiple family
members are caused by gene mutations, which can be
inherited. This situation might be described as “running in
the family.” In this context, genetic analysis is indicated,
especially in the case when two or more members of the
same family have similar phenotypes. Whole exome sequencing
(WES) represents a significant breakthrough in
clinical genetics as a powerful tool for etiological discovery
in neurodevelopmental disorders. In the last decade, microarray-based copy number
variation (CNV) analysis has been proved as a particularly
useful strategy in the discovery of loci and candidate genes
associated with phenotypes characterized by significant
deficits in cognitive and adaptive skills during the developmental
period, and it is widely used in the clinics with
a diagnostic purpose. Research confirmed that CNVs are a
common cause of intellectual impairment and/or multiple
congenital anomalies. Today, rare CNVs are recognized
as an important cause of various neurodevelopmental disorders,
including intellectual impairment and epilepsy.
In some cases, a second CNV may contribute to a more
severe clinical presentation [3-5].
The chromosome 16p13.3.11 duplication is a chromosome
abnormality that can affect many parts of the body.
People with this condition have an extra piece of genetic
material (duplication) on chromosome 16 at a location
designated p13.3. The symptoms and severity vary from
person to person because not everyone with a 16p13.3.11
duplication has the same amount of extra DNA. Possible
symptoms include developmental delay (DD), speech
delay, joint abnormalities, characteristic facial features,
attention deficit, autism and underlying health problems
such as heart conditions. Most cases are not inherited and
occur randomly. Less commonly, the duplication is inherited
from a parent [6].
In this study, we report a family occurrence of the
same genetic finding (chromosome 16p13.3.11 duplication)
where two siblings manifested a global neurodevelopmental
delay associated with an autism and the other
two (twin) brothers without clinical manifestation of neurodevelopmental
issues. Genetic analysis showed that the
mutation was inherited from the father.
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