Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis
Table 2
Potentially causative genes on chromosome 10p11.22p15.3 that may play a role in our patient’s phenotypic findings.
Gene Name
OMIM ID
Gene description
Gene product function
Relation to patient’s phenotype
PFKP
171840
Homo sapiens phosphofructokinase, platelet (PFKP), mRNA
Encodes the platelet isoform of phosphofructokinase (PFK), a key regulatory enzyme in glycolysis. This gene is also expressed in fibroblasts.
Thrombocytopenia
TAF3
606576
Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, mRNA
A critical member of the highly conserved transcription factor machinery, TAF3 has been found to be involved in early development and hematopoiesis [4] as well as skeletal muscle differentiation [5].
Thrombocytopenia, clubfeet
MYO3A
606808
Homo sapiens, Myosin IIIA, mRNA
Encodes a member of the myosin superfamily. This particular protein product is strongly expressed in the cochlea and the retina. Loss of function mutations have been reported to contribute to nonsyndromic progressive hearing loss.
Possibly progressing hearing impairment, need for regular checkups
