Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Table 1 Clinical, molecular and biochemical characterization of 15 new EDS VIA patients.

	P1	P2	P3	P4a	P4b	P5	P6	P7a	P7b	P7c	P8	P9	P10	P11	P12
Sex	M	M	F	M	M	M	F	F	F	M	M	M	F	F	F
Age at diagnosis	9 m	27 y	14 y	4 y	6 m	9 y	5 m	15 m	14 m	13 m	19 m	16 y	16 y	18 m	8 m
Ethnicity	Mazedonia	Serbia	Iran	Turkey	Turkey	Turkey	Netherland	Somalia	Somalia	Somalia	Turkey	Turkey	Spain	Turkey	Iraqui
Consanguinity	+	-	+	+	+	+	-	+	+	+	+	+	+	+	+
Urinary LP/HP #	8.16	5.47	5.59	4.02	9.5	5.15	8.48	8.32	9.03	not done	6.98	6.1	6.51	6.6	7.8
PLOD1 mutation	Dup/Dup	p.L85P/p.L85P *	c.1471-1 G > A/ c.1471-1 G > A*	Dup/Dup	Dup/Dup	c.1095C > T/ c.1095C > T*	c.1651-2 A > G/ c.1651-2 A > G*	p.G678R/p.G678R	p.G678R/ p.G678R	p.G678R/ p.G678R	DNA not available	p.Q345X/ p.Q345X*	c.466+ 1G > A/ c.466+ 1G > A*	DNA not available	p.Trp419leufsX48/ p.Trp419leufsX48
muscular hypotonia at birth	+	-	+	+	+	+	+	+	+	+	+	+	+	+	+
Kyphoscoliosis at birth	+	-	+	+	+	+	+	+	-	-	+	+	-	+	+
Marfanoid habitus	+	+	+	+	+	+	+	+	+	-	-	+	-	-	+
Delayed gross motor development	+	-	+	+	+	+	+	+	+	+	+	+	+	+	+
delayed cognitive development	-	-	-	-	-	-	-	-	-	-	+	+	+	+	+
Rupture of artery	-	+	-	-	-	-	-	-	-	-	-	-	-	-	+
Smooth velvety skin	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Extensibel fragile skin	-	-	+	?	?	+	+	?	+	+	+	?	+	?	+
Joint laxity	+	+	+	+	+	+	?	+	+	+	+	+	+	+	+
Hip dislocation at birth	+	-	+	-	-	+	-	-	-	-	+	-	-	-	+
Neuromuscular workup	+	-	-	-	-	+	-	+	-	-	+	-	+	+	-
Independent walking at age	2 y	1.5 y	4 y	?	?	?	2 y	n.a.	°	2 y	n.a	n.a	2 y	°	°
*newly described mutation

+, Finding present; -, finding absent; ? no information available,; °, patient < 24 months at last exam; n.a, not able to; m, month and y, year and ^# LP/HP in normal control: 0.20 ± 0.05 (range 0.10-0.38); *, newly described mutation; ^§, common duplication of exon 10 to exon 16.

ISSN: 1750-1172