X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Czeschik, Johanna Christina; Bauer, Peter; Buiting, Karin; Dufke, Claudia; Guillén-Navarro, Encarna; Johnson, Diana S; Koehler, Udo; López-González, Vanesa; Lüdecke, Hermann-Josef; Male, Alison; Morrogh, Deborah; Rieß, Angelika; Tzschach, Andreas; Wieczorek, Dagmar; Kuechler, Alma

doi:10.1186/1750-1172-8-146

Orphanet Journal of Rare Diseases

Table 1 Clinical description of our patients with ID type Nascimento (OMIM #300860), table modified after de Leeuw et al.[6]

From: X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7	Patient 8
	(brother of pat. 2)	(brother of pat. 1)	(cousin of pat. 1&2)	(nephew of pat. 5)	(uncle of pat. 4)	Patient 6	Patient 7	Patient 8
*Gender*	M	M	M	M	M	M	M	M
*Positive family history*	+	+	+	+	+	-	-	-
*Consanguinity*	+	+	-	-	-	-	-	-
*Gestational weeks*	38	38	38	39	40	40	38	36
*Birth weight [g]/[SD]*	n.r.	n.r.	3210/-0.23	3750/+0.61	2800/-1.87	4240/+1.4	4100/+1.81	3640/+1.74
*Birth length [cm]/[SD]*	n.r.	n.r.	50/-0.48	51/-0.39	n.r.	55/+1.09	n.r.	n.r.
*Birth OFC [cm]/[SD]*	n.r.	n.r.	n.r.	33/-1.77	n.r.	34/-1.23	n.r	n.r
*Age at last examination [y]*	19 ¹¹/₁₂	11 ⁶/₁₂	5 ⁹/₁₂	15 ⁰/₁₂	38	7 ⁰/₁₂	2¹⁰/₁₂	6/12
*Height [cm]/[SD]*	159/-2.75	146/-0.2	108/-1.92	161/-1.1	165/-1.89	122/-0.32	98/+0.25	77/-2.05
*Weight [kg]/BMI [kg/m2]*	68/26.9	34/15.95	18/15.43	51.9/20.02	72.7/26.7	26.1/17.54	16.4/17.1	n.r
*OFC [cm]/[SD]*	58/+1.22	52.5/-0.72	49/-2.44	54/-0.84	58/+1.22	54/+0.98	50.3/-0.37	46.5/-1.56
*Development*
*Crawling*	+ (starting at 18 months)	+ (starting at 18 months)	+	n.r.	n.r.	+	-	n.r
*Walking*	with support (starting at 3 years)	+ (starting at 3 years)	with support	+ (starting at 18 months)	+ (starting at 4 years)	+ (starting at 18 months; progressive spasticity of legs and loss of motor skills)	stands and walks short distances with support	with support at 2.5 years
*Expressive speech*	-	-	few words	+ (first words at 2 years; currently simple sentences)	few words	-	several monosyllables	few at 2.5 years
							20 signs
							communicates needs
*Basic speech comprehension*	+	+	+	+	+	+	+	n.r.
*Neurological abnormalities*
*Seizures*	unspecified (starting at 19 years)	-	complex-focal (starting at 7 months)	-	+ temporal lobe epilepsy (starting at 5 years	tonic-clonic, grand mal, absences (starting at 2 years)	absences.	no
*Seizures*	unspecified (starting at 19 years)	-	complex-focal (starting at 7 months)	-	+ temporal lobe epilepsy (starting at 5 years	tonic-clonic, grand mal, absences (starting at 2 years)	myoclonic	no
*Intellectual disability*	severe	severe	severe	moderate	severe	severe	severe	yes
*White matter abnormalities*	n.r.	n.r.	+	-	-	-	+	n.r
*Hypoplastic cerebellum*	n.r.	n.r.	-	-	-	-	-	n.r
*Other MRI findings*	n.r.	n.r.	n.r.	benign pineal gland cyst	-	congenital gyration defect, pinealis tumour, progressive global brain atrophy	low termination of spinal cord L2-L3	n.r
*Craniofacial dysmorphism*
*Synophrys*	+	+	+	+	+	+	-	-
*Macrostomia*	+	+	+	+	+	+	+	+
*Short, broad neck*	+	+	+	-	+	+	-	-
*Low posterior hairline*	+	+	+	-	+	n.r.	+	-
*Depressed nasal bridge*	+	+	+	-	+	+	+	+
*Prominent columella and hypoplastic alae nasi*	+	+	+	+	+	+	+	+
*Ocular hypertelorism*	+	+	+	-	-	+	-	+
*Upslanting palpebral fissures*	+	+	-	+	+	-	+	+
*Preauricular pits*	+ (unilateral)	-	-	-	-	-	-	-
*Urogenital abnormalities*
*Micropenis*	-	+	-	-	-	+	-	+
*Cryptorchidism*	-	-	-	-	-	-	-	+
*Hypospadias*	-	-	-	-	-	-	-	+
*Renal abnormalities*	n.r.	n.r.	vesico-ureteral reflux	-	-	n.r.	n.r.	-
*Skin abnormalities*
*Generalized hirsutism*	+	+	- (lumbar hypertrichosis)	+	+	-	- (increased hair growthon legs)	-
*Myxedematous appearance*	+	+	-	-	+	+	-	-
*Widely spaced nipples*	+	+	n.r.	-	n.r.	+	+	-
*Dry skin*	+	+	+	+	+		-
*Hair whorls*	+	+	-	-	-		-	-
*Onychodystrophy*	+	+	-	-	-	-	-	-
*Streaky hyperpigmentation*	-	-	inguinal to thigh (unilateral)	-	-		-	-
*Others*
*Postnatal hyperbilirubinemia*	+	+	+	-	-	-	-
*Feet abnormalities*	small, pes cavus	small, pes cavus	-	small, pes cavus; subluxation of second and third metatarsophalangeal joints (right foot)	small, pes cavus	clubbed nail on first toe	bilateral talipes equinovarus	2nd toe overlaps 3rd
*Proximally inserted thumbs*	+	-	+	-	+	+	-	-
*Heart defect*	-	-	ventricular septum defect	-	-	double-outlet right ventricle, inlet ventricular septum defect, mitral stenosis, persistent superior vena cava , pulmonary hypertension	venticular septum defect	truncus arteriosus, ventricular septum defect, atrial septum defect, patent foramen ovale, branch pulmonary artery stenosis
							patent foramen ovale
							patent ductus arteriosus (resolved by 2 years)
*Hearing loss*	-	-	-	--	+	-	-	-
*Congenital cataract*	-	-	-	--	-	-	-	-
*Recurrent infections*	recurrent cutaneous abscesses	-	-	recurrent respiratory and ear infections	-	-	prolonged respiratory infections neutropenia	-
*Chronic constipation*	+	+	-	+	+		occasional problems only	-
*Results*
*UBE2A mutation*				c.236C > G (p.Pro79Arg)	c.236C > G (p.Pro79Arg)	c.387G dup(p.Tyr130Valfs*9)
*UBE2A deletion*	arr [hg19]Xq24 (118,706,962-118,714,074)x0 mat	arr[hg19] Xq24 (118,706,962-118,714,074)x0 mat	arr[hg19] Xq24 (118,706,962-118,714,074)x0 mat				arr[hg19] Xq24 (118,581,896-118,842,750)x0 mat	arr[hg19] Xq24 (118,679,518-118,717,453)x0 mat

n.r. = not recorded.

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ISSN: 1750-1172

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