Table 1.

Comparative clinical and mutational characteristics of patients reported here with other patients harboring the same mutations.

	Patient 1	Patient 3a	Patient 2	Patient 14b	Patient 17b
cDNA mutation	c.187C>T	c.187C>T	c.2293C>T	c.2293C>T	c.2293C>T; c.1827_1828_insG
Protein mutation	p.R63X	p.R63X	p.Q765X; p.F726Sfs*10	p.Q765X	p.Q765X; p.W609fsX625
Cutis laxa	+	+	+	+	+
Large fontanelles	+	+	+	+	+
Microcephaly	+	+	+	+	+
Eye anomalies	+	+	−	+	+
Hypotonia	+	+	+	+	+
Neurodevelopmental delay	+	+	+	+	+
Delayed growth	+	+	+	−	+
Joint laxity	+	+	+	+	+
Hernias	+	−	−	+	−
CNS anomalies	+	+	+	+	−
Congenital cardiac anomalies	+	−	−	−	−
Congenital urogenital anomalies	+	+	−	−	−
Coagulation anomalies	−	−	−	+	−
Liver function anomalies	−	−	−	−	−
Congenital joint anomalies	−	+	+	−	+
Recurrent urinary tract infections	+	+	−	−	−
Seizures	−	+	−	−	−
Abnormal transferrin	+	+	+	n.d	n.d
Abnormal ApoCIII	−	+	+	n.d	n.d

For comparison purposes (+/−) represents the presence or absence of the clinical finding, no grading was used as patients compared to our Patients 1 and 2 were studied by another group. N.D., non determined.

^aPatient 3 has been reported previously [1], [12].

^bPatients 14 and 17 has been reported previously [7].