Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

BMC Pediatrics

Table 1 Overview of variants and phenotypes observed in patients with LCCS3

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Our fetus 1 (II-2)	Our fetus 2 (II-4)
	Narkis et al. 2007	Narkis et al. 2007	Narkis et al. 2007	Narkis et al. 2007	Narkis et al.2007	Our fetus 1 (II-2)	Our fetus 2 (II-4)
Race	Bedouin	Bedouin	Bedouin	Bedouin	Bedouin	Chinese	Chinese
Variants	c.757G>A,	c.757G>A	c.757G>A	c.757G>A	c.757G>A	c.688_689del:	c.688_689del:
	p.Asp253Asn	p.Asp253Asn	p.Asp253Asn	p.Asp253Asn	p.Asp253Asn	p.G230Qfs*114	p.G230Qfs*114
	(homozygous)	(homozygous)	(homozygous)	(homozygous)	(homozygous)	c.949_952dup:	c.949_952dup:
						p.S318Ifs*28	p.S318Ifs*28
Clinical findings
Dyskinesia	+	+	+	+	+	+	+
Joint contractures	+	+	+	+	+	+	+ (stiffness in the limbs, extended knees)
Hand anomalies	NA	NA	NA	NA	NA	+ (flexion contractures of fingers; overlapping fingers)	+ (persistently closed hands)
Talipes equinovarus	NA	NA	NA	NA	NA	+	+
Brain anomalies	NA	NA	NA	NA	NA	–	+ (bilateral dilated lateral ventricles)
Gestational age at birth	29 W	29 W	Full term	Full term	Full term	26 W	Termination
Outcome	Died	Died	Died	Died	Died	Died
Cause of death	respiratory insufficiency	respiratory insufficiency	respiratory insufficiency	respiratory insufficiency	respiratory insufficiency	respiratory insufficiency

ISSN: 1471-2431