Taxon:

Human

Gene:

"UPD"

Chromosome:

10

Location:

Description:

Maternal UPD has been reported but parent-of-origin effects are considered unlikely (Ledbetter DH et al. 1995; Hurst LD et al. 1997).
A fatal case of familial haemophagocytic lymphohistiocytosis due to maternal UPD of chromosome 10 has been reported (Al-Jasmi F et al 2008).
Maternal UPD of chromosome 10 was reported to be the cause of a mitochondrial DNA depletion syndrome in a Portuguese child. The proband inherited two mutated C10orf2 alleles. C10orf2 codes for a mitochondrial helicase called Twinkle (Nogueira C et al 2013).
A child born with multiple clinical manifestations (bilateral deafness, binocular blindness, mild cleft palate, orbital hypertelorism, patchy skin depigmentation and muscular hypotonia) was found to have maternal UPD of chromosome 10. No single candidate gene was able to explain this complex range of problems (Li N et al 2016).
A case of a fetus with maternal UPD, mosaic for an additional chromsome derived from 10p (partial trisomy) revealed hypoplasia of the heart, liver, kidneys and suprarenal glands (Schlegel M et al. 2002).

A child presymptomatic for multiple endocrine neoplasia type 2A was found to have partial paternal UPD of chromosome 10 (Kousseff BG et al 1992, Am J Hum Genet. 1992; 51(Suppl): pg. A219 (abstract no. 863)).

Category:

Disomy (UPD)

Record:

23

Last Modified 1/20/2017

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