Table 2

Rare inherited changes identified in patients with congenital diaphragmatic hernia

Patient number	Copy number change	Inheritance pattern	Chromosome	Genes involved	Minimum/maximum hg19	Clinical synopsis
TX-02	Increase	Paternal	15q24.2	COMMD4, NEIL1	75 605 889-75 644 263/75 600 108-75 648 132	Female, left-sided CDH, large bronchopulmonary sequestration
TX-04	Increase	Paternal and maternal increased copy number	3q26.33	SOX2, SOX2OT	181 430 003-181 431 902/181 425 656-181 432 270	Male, isolated right-sided CDH
	Increase	Maternal	5q11.2	ARL15, HSPB3	53 450 417-53 759 016/53 443 541-53 765 448
	Increase	Paternal and maternal increased copy number	18p11.21	GNAL, MPPE1^*	11 872 270-11 878 083/11 863 962-11 884 082
TX-12	Decrease	Paternal	7q32.1	AHCYL2	128 988 273-128 996 545/128 978 921-129 002 744	Male, isolated left-sided CDH
TX-14	Increase	Paternal	13q21.33	KLHL1, SCA8, ATXN8OS	70 673 470-71 577 278/70 666 491-71 594 524	Male, isolated left-sided CDH
TX-23	Increase	Maternal	1p31.3	CACHD1, RAVER2	65 144 120-65 210 203/65 137 345-65 218 480	Female, right-sided CDH, ASD, misshaped kidney
TX-27	Decrease	Parents not available	14q21.1	FBXO33	39 884 781-40 262 115/39 875 206-40 301 762	Female, isolated left-sided
TX-28	Increase	Patient n=4 Mother and father n=3	11q13.5	AQP11, CLNS1A, RSF1	77 297 657-77 424 591/77 270 540-77 431 584	Female, left-sided CDH, double outlet right ventricle, VSD
TX-36	Decrease	Not maternal, father not available	1p12	HSD3B2	119 962 240-119 983 891/119 957 963-119 994 447	Male, isolated left-sided CDH
TX-39	Decrease	Maternal	16p13.3	DNASE1, TRAP1	3 684 132-3 716 095/3 672 598-3 726 606	Female, left-sided posterior CDH, bicommissural aortic valve
TX-42	Increase	Paternal and maternal increased copy number	1q24.3	DNM3	171 944 462-171 958 347/171 936 289-171 970 634	Male, isolated left-sided posterior CDH
TX-42	Decrease	Paternal	15q21.2	USP8^, USP50*	50 802 672-50 822 065/50 791 758-50 833 347	Male, isolated left-sided posterior CDH
TX-50	Decrease	Patient n=0 Parents n=1	17q25.1	TRIM4^*	73 875 459-73 878 627/73 870 461-73 882 792	Male, isolated left-sided CDH
TX-50	Increase	Maternal n=2	Xq27.1	F9, MCF2, ATP11C, MIR505, CXorf66	138 594 571-139 089 290/138 556 308-139 102 322	Male, isolated left-sided CDH
TX-52	Decrease	Paternal	15q23	AAGAB^, IQCH, C15orf61, MAP2K5*	67 548 229-68 040 596/67 540 042-68 049 656	Female, right-sided CDH, ASD
TX-56	Increase	Maternal	Xp11.1	ZXDA	57 704 902-57 987 522/57 673 005-58 051 706	Male, right-sided CDH, left-sided inguinal hernia
TX-65	Decrease	Maternal	7q31.1	DOCK4	111 668 580-111 784 369/111 653 357-111 789 489	Male, left-sided CDH, extra-lobar pulmonary sequestration
TX-72	Increase	Paternal and maternal Increased copy number	3q13.31	GRAMD1C^, ZDHHC23*	113 668 345-113 672 579/113 664 314-113 679 817	Male, left-sided posterior CDH
TX-73	Increase	Paternal	20p12.2	SNAP25, MKKS, C20orf94, JAG1	10 223 539-10 902 949/10 213 446-10 937 659	Male, left-sided CDH, ASD; sibling died shortly after birth with CDH

↵* Genes located outside the minimal deleted region but are located, at least partially, inside the maximal deleted region.
ASD, atrial septal defect; CDH, congenital diaphragmatic hernia; VSD, ventricular septal defect.