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Table 1 Features of patients with 16q24.1q24.2 deletion harboring FOXF1, FOXL1 and FOXC2

From: Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype

Cases

1

2

3

4

5

6

7

8

9

10

11

References

15

16

16

16

16

16

16

17

18

3

Our case

Genome coordinates (hg18/ hg19)

chr16:84447762-85815086

chr16:83705765-85204004

chr16:84275154-86275754

chr16:84374208-85277007

chr16:84402571-85435712

chr16:82908199-86405076

chr16:84648160-86478255

chr16:85108709-86720212

chr16:85728812-86831579

chr16:85863000-87370500

chr16:85220000-87340000

Karyotype

NA

NA

NA

NA

NA

NA

NA

Deletions (del) [Mb]

1.37

1.5

2.0

0.9

1.0

3.5

1.8

1.57

1.1

1.45

2.12

Female/Male

Male

Female

Male

Male

Female

Male

Female

Male

Male

Male

Female

Inheritance

De novo

Maternal

NA

Maternal

Maternal

De novo

Maternal

NA

NA

NA

De novo

Other pathogenic genes

IRF8; FOXL1

FOXL1

FOXL1

FOXL1

FOXL1

FOXL1

FOXL1

IRF8; FOXL1

IRF8; FOXL1; COX4I1

IRF8; FOXL1; FENDRR

FOXL1; IRF8; COX4I1; FENDRR

Prenatal fingdings

BH; PE; PHD; HLHS

NA

NA

NA

NA

NA

NA

PH; partial AVC defect; BH

Cystic hygroma; fetal hydrops; SUA

PHD; omphalocele; hydronephrosis and VSD

Widened PA; AVSD; CAV; FOC; mass in kidney; SD; ED

Delivery GA. (W)

37

28

22

38

37

NA

NA

26

22

39 + 1

23 + 6

Birth Wt. (g)

NA

1091

NA

2900

NA

NA

3676

592.4

NA

2920

NA

Respiratory findings

ACD/MPV

ACD/MPV; PL

ACD/MPV; ECMO dependent

ACD/MPV; LP; hypoxemia; ECMO dependent

ECMO dependent

ACD/MPV

ACD/MPV

ACD/MPV

NA

LDS

Cardiac findings

HLHS; PVA; small main PA; VSD; ASD; PDA; PLSVC; CP

PDA

HLHS

TOF; PDA; PPHN

HLHS

IAA; dilated PA; large PDA; small LV; PH

PDA; PPHN

Partial AVC malformation; Small PA

PPHN; ASD; VSD

NA

Genitourinary findings

Hydronephrosis; hypospadias

Dilated renal pelvices

BH

Mild uretero-pelvic caliectasis

Bilateral renal pelviectasis

Bilateral dilatation of the PS with bilateral US

NA

Gastro-intestinal findings

IM; ectopic cecum and appendix

EA; TSF; ectopic anus

DA; AP; imperforate anus

Adhesions between bowel loops、 duodenum and gallbladder

AP; duodenal dilatation proximal to the pancreas

Lack of peristalsis

NA

Other findings

HP; flat nasal bridge; HM; decreased muscle tone

SUA

SUA

T11 butterfly vertebra; cleft lip; cleft palate; brachycephaly; SUA

Posterior rib fusions: 10/11 (right side), 9/10 and 11/12 (left side)

Intrauterine infection

Low set ears and soft tissue edema of the neck

Coagulopathy; metabolic acidosis

NA

LS

3 days

1 days

/

40 days

15 days

18 days

25 days

16 h

/

13 days

/

  1. AP annular pancreas, ASD atrial septal defect, AVC atrio-ventricular canal defect, AVSD atrioventricular septal defect, BH bilateral hydronephrosis, CAV common atrioventricular valve, CP cor pulmonale, DA duodenal atresia, EA esophageal atresia, ECMO extracorporeal membrane oxygenation, ED esophageal dilation, FOC foramen ovale closure, GA gestation, HLHS hypoplastic left heart syndrome, HM holosystolic murmur, HP hypertelorism, IAA interrupted aortic arch, IM intestinal malrotation, LP left pneumothorax, LS lifespan, LV left ventricle, NA not available, PA pulmonary artery, PDA patent ductus arteriosus, PE pleural effusion, PH pulmonary hypertension, PHD polyhydramnios, PL pulmonary lymphangiectasia, PLSVC persistent left superior vena Cava, PPHN persistent pulmonary hypertension of the newborn, PS pelvocaliceal system, PVA pulmonary valve atresia, SD dilatation of the stomach, SUA single umbilical artery, TOF tetralogy of Fallot, TSF tracheae-sophageal fistula, US ureteral stenosis, VSD ventricular septal defect, “–” normal