Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect

Table 1

Detected CNVs, genomic position, and genes concerned based on hg19 (GRCh37).

Chromosome region	Type of variation	Genomic position	Length	OMIM genes involved (OMIM number)
2p21	Duplication	45,172,033–45,172,359	327	SIX3 (603714)
2q21.1	Duplication	131,280,135–131,280,852	718	CFC1 (605194)
6p25.3	Deletion	259,911–279,697	19,787	No genes
6q24.2	Duplication	144,328,772–144,328,954	184	PLAGL1 (603044)
8p23.1	Deletion	7,187,789–7,410,327	222,540	DEFB4A (602215), DEFB103A (606611), SPAG11 (606560)
10q11.22	Deletion	46,550,833–47,776,322	1,225,490	PTPN20A (610630), PTPN20B (610631), SYT15 (608081), GPRIN2 (611240), PPYR1 (601790), ANXA8 (602396)
10q11.22	Deletion	48,879,347–49,262,377	383,031	No genes
14q32.33	Duplication	106,405,733–107,209,400	803,668	No genes
Xp22.33	Deletion	77,270–161,183	83,914	No genes

CNV = copy number variation.