Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

Iqbal, Nida S.; Jascur, Thomas A.; Harrison, Steven M.; Edwards, Angelena B.; Smith, Luke T.; Choi, Erin S.; Arevalo, Michelle K.; Chen, Catherine; Zhang, Shaohua; Kern, Adam J.; Scheuerle, Angela E.; Sanchez, Emma J.; Xing, Chao; Baker, Linda A.

doi:10.1186/s12881-020-0973-x

Table 1 Clinical features of Prune Belly Syndrome Subjects with FLNA mutations

From: Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

PBS Subject		Subject 1		Subject 2		Subject 3		Subject 4
Current Age, years		29 yrs		25 yrs		51 yrs		7 yrs
Prenatal History (Gestational age at birth, weeks)		Oligohydramnios, multiple fetal bladder aspirations performed		Oligohydramnios		N/A (born at 40 weeks)		Oligohydramnios
Stage of Life		Pediatric	Adult	Pediatric	Adult	Pediatric	Adult	Pediatric	Adult
PBS RUBACE Phenotype	Renal	Renal dysplasia	ESRD^b s/p^c renal transplant	Renal dysplasia requiring peritoneal dialysis	ESRD s/p cadaveric renal transplant	Obstructive uropathy requiring cutaneous ureterostomy	CKD^a stage 3	Normal renal function
	Ureteral	Bilateral VUR with bilateral ureteral reimplantation, urethral obstruction requiring dilation		Right VUR treated with bilateral tapered ureteral reimplantation		Bilateral ureterovesical junction obstruction necessitating bilateral ureterostomies and bilateral ureteral reimplantation × 3, no VUR^d present		Bilateral VUR with spontaneous resolution
	Bladder	Large bladder capacity with urachal diverticulum, vesicostomy and clean intermittent catheterization		Large capacity bladder, cutaneous continent vesicostomy, clean intermittent catheterization		Small capacity bladder (40-50 cc at 4.5 years of age) necessitating conduit diversion at age 6	Ileal conduit	Large capacity bladder s/p urachal diverticulectomy and clean intermittent catheterization
	Abdominal Musculature	Severe laxity and wrinkling		Laxity	Mesh abdominal closure after Transplantation	Laxity	Right large direct and indirect inguinal hernia repair	Laxity
	Cryptorchidism	Bilateral intraabdominal non-palpable testes (bilateral orchiopexy)		Bilateral inguinal testes (left orchiopexy and right orchiectomy)		Bilateral undescended testes (bilateral orchiopexy)	Right orchiopexy; recurrent large hydroceles	Bilateral non-palpable testes (bilateral orchiopexy)
	Extra-genitourinary: Gastrointestinal	Nissen and Gastrostomy tube for GERD^e, Constipation		Malrotation, duodenal perforation, Nissen and gastrostomy tube for GERD, Constipation			Constipation	Constipation
	Extra-genitourinary: Respiratory	Ventilator dependent at birth	Reactive airway disease	Ventilator dependent in infancy		Right Upper lobe pneumonia in first month of life	Normal	Normal
	PBS RUBACE Severity Score (range 0–31) and PBS category	22, Syndromic PBS		24, Syndromic PBS		14, Isolated PBS		13, Isolated PBS
OPDSD Phenotypes	Craniofacial	Craniosynostosis, Skull base sclerosis, Prominent supraorbital ridge, full cheeks, hypodontia, micrognathia		Prominent supraorbital ridge, down slanting palpebral fissures, proptosis, ocular hypertelorism, hypodontia, micrognathia and facial asymmetry (Pierre Robin Sequence)		Normal		Normal
	Deafness	Absent		Congenital hearing loss bilaterally (hearing aids), recurrent otitis media and PET		Absent		Absent
	Cleft Palate	Absent		Yes, Bilaterally surgically corrected		High arched palate		Absent
	Thorax	Pectus carinum, Irregular ribs (flaring of the anterior ribs bilaterally)		Pectus carinum, Irregular ribs (absent T12 ribs bilaterally)		Normal		Normal
	Heart	Atrial Septal Defect		Atrial Septal Defect		Normal		Normal
	Omphalocele	Absent		Absent		Absent		Absent
	Scoliosis	Lumbar Levoscoliosis, non-surgical		T5-L4 Kyphoscoliosis s/p Posterior Spinal Fusion and L3-pelvis fusion (residual 38° thoracic levoscoliosis and 88° thoracolumbar kyphosis)		Mild, non-surgical		Not present
	Limbs/Digits	Bilateral genu vaigum S/P bilateral distal femoral osteostomies, Short Achilles tendon, Broad thumbs, 2 nails on right 3rd toe, Hammer shaped toe, wide spaced toes, Hypoplastic distal phalanges		Short proximally placed thumbs, hypoplastic distal phalanges, Short Achilles tendon, hypoplasia of the great toe, long second toe		Hypoplastic distal phalanges, hypoplasia of the great toe		Hypoplastic distal phalanges, hypoplasia of the great toe
	CNS	Hydrocephalus S/P shunt X 2, Seizures		Normal		Normal		Normal
	Mentation	ADHD^f treated with concerta		Moderate Developmental Delay		Normal		Developmental Delay
	Other Anomalies	Hypotonia, thrombocytopenia				None		None

^a CKD (Chronic kidney disease)
^b ESRD (End stage renal disease)
^c S/P (status post)
^d VUR (vesicoureteral reflux)
^e GERD (gastroesophageal reflux)
^f ADHD (attention-deficit/hyperactivity disorder)

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ISSN: 1471-2350

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