The Role of Serotonin Transporter in Human Lung Development and in Neonatal Lung Disorders

Table 1

ACD/MVP patient population with testing for mutation and/or deletions in FOXF1. Cases not tested for deletions typically had fragmented and/or poorly preserved DNA making testing problematic.

Serial number	Gender	Survival in days	Gestation	Weight	Diagnosis	FOXF1 mutation	FOXF1 deletion	Other associated anomalies
1	F	5	39-5/7	3850	Autopsy	NM	NT	Coarctation of aorta; ventricular septal defect; mitral valve malformation; tricuspid valve malformation; malformed atrial septum
2	M	22	39	3240	Autopsy	NM	NT	Bilateral hydronephrosis secondary to posterior urethral valves
3	F	33	36-1/2	3120	Autopsy	NM	NT	None
4	M	12	37	N/A	Autopsy	NM	NT	Right lung with two lobes
5	M	4	38	3295	Autopsy	NM	NT	Marked hypertrophy of urinary bladder wall; bilaterally dilated ureters and renal pelves
6	F	9	40	4180	Autopsy	NM	NT	Butterfly vertebra; imperforate anus; abnormal pulmonary lobar configuration
7	F	30	41-2/7	3595	Autopsy	NM	NT	Small thymus with adrenal glands; single umbilical artery
8	M	47	40	3025	Autopsy	NM	ND	Bilateral ureteropelvic junction obstruction; hydronephrosis
9	M	10	32	2470	Autopsy	c.225C>A;		Bilateral bilobed lungs; malrotation of the intestine; bilateral hydronephrosis and hydroureters; annular pancreas and gastroduodenal stenosis
10	M	0.5	32	2435	Autopsy	c.850dupT; 11		Lymphangiectasia; renal cortical cysts; pneumothorax; renal obstructive dysplasia
11	M	46	40	5057	Autopsy	c.1138T>C; 73		Malrotation of the colon with Meckel’s diverticulum
12	F	13	40	3600	Biopsy	NM	Upstream	None
13	F	25	N/A	3676	Biopsy	NM	Genic	Abnormal lobation
14	M	40	38	2900	Autopsy	NM	Genic	Ventricular septal defect; duodenal atresia; annular pancreas; imperforate anus; hydronephrosis; tetralogy of Fallot

NM, no mutation; NT, not tested; ND, tested no deletion; Genic, deletions involving FOXF1 sequences; Upstream, deletions involving upstream sequences of FOXF1 not involving the gene itself.