Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

Diagnostic Pathology

Table 1 consanguinity profile and genotypes characteristics of MPS I Tunisians patients

MPS I families	age of parents at birth	relationship (affected/unaffected siblings)	origin	Consanguinity	Mutations	MPS I subtype	references
1	38 years (M), 40 years (F)	3/0	Sfax (South)	3^rd degree	p.F602X_H	Hurler	[11]
2	55 years (M), 65 years (F)	2/2	Gabes (South)	1^st degree	p.P533R_H	Hurler	[11]
3	40 years (M), 49 years (F)	2/2	Djerba Island (South)	2^rd degree	p.P533R_H	Hurler/Scheie	[11]
4	34 years (M), 40 years (F)	1/3	Tunis (North)	1^st degree	p.P533R_H	Hurler/Scheie	[11]
5	50 years (M), 62 years (F)	1/6	Mahdia (Center)	1^st degree	p.R628X_H	Hurler	[11]
6	42 years (M), 50 years (F)	1/3	Sousse (Center)	1^st degree	p.P533R_H	Hurler	[11]
7	37 years (M), 44 years (F)	1/6	Djerba Island (South)	2^rd degree	p.L578Q/p.P533R	Scheie	[11]
8	38 years (M), 46years (F)	1/1	Makther	2^rd degree	p.Y581X_H	Hurler	[11]
A	42 years (M), 46 years (F)	1/3	Sfax (sud)	3^rd degree	p.P533R_H	Scheie	[12]
B	41 years (M), 41 years (F)	1/6	Djerba Island (South)	2^rd degree	p.P533R_H	Hurler	[12]
C	37 years (M), 44 years (F)	1/0	Bizerte (North)	1^st degree	p.L530fs_H	Hurler	[12]
D	39 years (M), 39 years (F)	1/2	Tunis (North)	1^st degree	p.Y581X_H	Hurler	[12]
E	38 years (M), 42years (F)	1/2	Tunis (North)	1^st degree	p.F177S_H	Hurler	[12]
F	42 years (M), 46 years (F)	1/7	Djerba Island (South)	2^rd degree	p.P533R_H	Hurler	[12]

ISSN: 1746-1596