Evaluation of SHOX copy number variations in patients with Müllerian aplasia

Table 1 Genomic aberrations found in patients with Müllerian aplasia and in healthy controls.

Region/gene	Aberration	MLPA probe	Cases	Controls	Reference
Xp22.32-PAR1	Gain	09335-L15508^a	1*	1*	DGV^b, Gervasini et al, 2010
Xp22.32-PAR1	Loss	09335-L15508	1	1	DGV
Xp22.32-PAR1	Gain	14697-L16348^a	1*	1*	DGV, Gervasini et al, 2010
Xp22.32-PAR1	Loss	14697-L16348		1	DGV
Xp22.32-PAR1 to CRLF2	Gain	13296-L15336 -13911-L16505		1	all 11 probes reported in DGV
CSF2RA	Gain	10251-L15502		2	DGV
IL3RA	Gain	13597-L15055	1		DGV
ASMT	Gain	01153-L00712^c	2	1	DGV, Gervasini et al, 2010

Genomic aberrations found downstream of SHOX (short stature homeobox gene) by multiplex ligation-dependent probe amplification (MLPA, SALSA PO18-E1 SHOX) in 101 Finnish patients with Müllerian aplasia and in 115 healthy controls. One patient sample and one control sample had two copy number variations (CNVs)*, all other samples had one CNV each.
^athe probe sequence is partly overlapping with one MLPA probe (5650-L5104) from version PO18-B SHOX used by Gervasini et al, 2010.
^bDGV (Database of Genomic Variants, http://projects.tcag.ca/variation)
^cthe probe sequence covers the same genomic region as one MLPA probe (1153-L0712) from version PO18-B SHOX used by Gervasini et al, 2010.

ISSN: 1750-1172