Phenotypic spectrum in uniparental disomy: Low incidence or lack of study.
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Date
2013-07
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Abstract
CONTEXT: Alterations in the human chromosomal
complement are expressed phenotypically ranging from
(i) normal, via (ii) frequent fetal loss in otherwise normal
person, to (iii) sub‑clinical to severe mental retardation and
dysmorphism in live births. A subtle and microscopically
undetectable chromosomal alteration is uniparental
disomy (UPD), which is known to be associated with distinct
birth defects as per the chromosome involved and parental
origin. UPD can be evident due to imprinted genes and/or
activation of recessive mutations.
AIMS: The present study comprises of data mining
of published UPD cases with a focus on associated
phenotypes. The goal was to identify non‑random and
recurrent associations between UPD and various genetic
conditions, which can possibly indicate the presence of
new imprinted genes.
SETTINGS AND DESIGN: Data mining was carried out
using the homepage “https://www.fish.uniklinikum‑jena.de/
UPD.html,” an online catalog of published cases with UPD.
MATERIALS AND METHODS: The UPD cases having
normal karyotype and with or without clinical findings were
selected to analyze the associated phenotypes for each
chromosome, maternal or paternal involved in UPD.
RESULTS: Our results revealed many genetic conditions
(other than the known UPD syndromes) to be associated with
UPD. Even in cases of bad obstetric history as well as normal
individuals chance detection of UPD has been reported.
CONCLUSIONS: The role of UPD in human genetic disorders
needs to be studied by involving larger cohorts of individuals
with birth defects as well as normal population. The genetic
conditions were scrutinized in terms of inheritance patterns;
majority of these were autosomal recessive indicating the
role of UPD as an underlying mechanism.
Description
Keywords
Autosomal recessive, birth defects, data mining, phenotypic expression, uniparental disomy
Citation
Bhatt Arpan D, Liehr Thomas, Bakshi Sonal R. Phenotypic spectrum in uniparental disomy: Low incidence or lack of study. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 311-314.