Abstract: The Roma (Gypsies) is a transnational minority with a
high degree of consanguineous marriages. Similar to other
genetically isolated founder populations, the Roma harbor a number
of unique or rare genetic disorders. This paper discusses about a rare
form of Charcot-Marie-Tooth disease – type 4G (CMT4G), also
called Hereditary Motor and Sensory Neuropathy type Russe, an
autosomal recessive disease caused by mutation private to Roma
characterized by abnormally increased density of non-myelinated
axons. CMT4G was originally found in Bulgarian Roma and in 2009
two putative causative mutations in the HK1 gene were identified.
Since then, several cases were reported in Roma families mainly
from Bulgaria and Spain. Here we present a Slovak Roma family in
which CMT4G was diagnosed on the basis of clinical examination
and genetic testing. This case is a further proof of the role of the HK1
gene in pathogenesis of the disease. It confirms that mutation in the
HK1 gene is a common cause of autosomal recessive CMT disease in
Roma and should be considered as a common part of a diagnostic
procedure.
Abstract: Monoamine oxidase A gene (MAOA) is suggested to
be a candidate gene implicated in many neuropsychiatric disorders,
including autism spectrum disorder (ASD). This meta-analytic review
evaluates the relationship between ASD and MAOA markers such as
30 bp variable number tandem repeats in the promoter region
(uVNTR) and single nucleotide polymorphisms (SNPs) by using
findings from recently published studies. It seems that in Caucasian
males, the risk of developing ASD increase with the presence of 4-
repeat allele in the promoter region of MAOA gene whereas no
differences were found between autistic patients and controls in
Egyptian, West Bengal and Korean population. Some studies point to
the importance of specific haplotype groups of SNPs and interaction
of MAOA with others genes (e. g. FOXP2 or SRY). The results of
existing studies are insufficient and further research is needed.