Wilson’s disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance

Table 4 Lebanese vs regional Arab and non-European Wilson’s disease patients: Genotype-phenotype

	Lebanon	Egypt	Iran	Turkey	Saudi Arabia	Oman
Number of patients	36	198	88	46	1521	14
Number of families	13	135	-	46	53	1
% Homozygosity	83%	68.4% - 85.7%	NAV	NAV	50%-53%	NAV
% Consanguinity	75%	39.5% - 78.9%	NAV	NAV	36.6%-88.8%	NAV
% Hepatic manifestation	28%	45.5% - 84.2%	65.20%	43.50%	25%-54.9%	0%
% Neurologic manifestation	12.50%	4.2%-15.8%	4.30%	34.80%	0%-25%	21.40%
% Mixed manifestation	21.80%	0%-20.9%	21.70%	21.70%	19.6%-55.6%	0%
% Asymptomatic	37%	0%-35.1%	-	0%	30.35%	78.60%
% KF rings	58%	26.3%-69.2%	65.20%	67.40%	50.7%-59%	NAV
Mutation
E2		Glu396stop
E3				Gly457stop
E4-6	No common mutations identified
E7	Gly691Arg			Gly691Arg
E8	2299insC	c. 2304-5insC	Trp779Gly	Gly710Ser	Ser744Pro
		Cys703Tyr		Pro767Arg
E9	No common or frequent mutations identified
E10	Val845Ser	Val845Ser	Val845Ser	Val845Ser
E11	No common or frequent mutations identified
E12	Trp939Cys
E13	Ala1003Thr		3061-1G>A sp	Ala1003Thr		Deletion of E13
E14		Thr1076Ile
		His1069Gln	His1069Gln	His1069Gln
E15	Thr1092Met	His1126fs	Ile1102Thr
E16-17	No common or frequent mutations identified
E18	Asn1270Ser	Asn1270Ser	Asn1270Ser	Asn1270Ser
	Pro1273Leu	Pro1273Leu
		IVS18-2A>G
E19	Arg1319stop	Arg1319stop		Arg1319stop
E20					Gly1341Ser
E21					Gln1399Arg
Ref.	Barada et al[13,30]	Abdelghaffar et al[12,22]	Dastsooz et al[27]	Simsek Papur et al[25]	Al Jumah et al[18]	Al-Tobi et al[29]
					Al Fadda et al[19]
	Usta et al[6,14]	El-Karaksy et al[23]	Zali et al[28]	Loudianos et al[26]	Majumdar et al[20,21]
		El-Mougy et al[24]

¹152 patients described in articles from Saudi Arabia, of which 5 patients were from yemen and syria.