Table 1 Family history and description of the three fucosidosis patients

Consanguinity of parents/degree

First degree

Second degree

Second degree

Age of diagnosis (Yr/Mo)

18 Mos

12 Mo

24 Mo

Age of onset (Yr/Mo)

9 Mo

8 Mo

18 Mo

Age of death

10 Yr

6 Yr

6 Yr

Sex

Male

Female

Male

FUCA1 assay (nmol/mg prot)

0.00

0.00

2.00

18.4 (2.3–41.9) in control subject

Elements excreted in the urine

Fuc(α1-6)GlcNAcβ4-Asn++++; Fucosylated oligosaccharides++++

Neurological deterioration

++++

++

+

Mental retardation

+++

+++

+++

Growth retardation

− 6SD

− 4SD

− 4SD

Macroglossia

++

++

+

Spasticity

+++

+++

++

Axial hypotonia

+++

+++

++

Visceromegaly

Hepatomegaly

–

–

Recurrent respiratory infections

+++

+++

++

Skin abnormalities

–

Angiokeratoma

Angiokeratoma

Type of fucosidosis

Type I

Type I

Type II

FUCA1 mutations identified

p.K57Sfs*75/p.K57Sfs*75^a

p.F77Sfs*55/p.F77Sfs*55^a

p.Gly332Glu /C.662+5g>c^a

Polymorphisms/sequence variants of the FUCA1 gene

p.P213P;(c.639A>T)^a+/+

p.Y216F;(c.647A>T)+/+

rs1215568236+/−, p.P10R+/−, rs370615681+/+, rs1329117558+/−, rs965877153T+/, rs1344267327+/+

IVS3-25T>A; (c.647A>T)^a+/+

p.L194N^a+/+

IVS2-110inst;(c.524 -110inst)^a+/+

p.P10R +/−

IVS2+38c>g; (c.509+38 c>g)^a+/+

IVS 3–29 a>c;(c.647–29 a>c)^a+/+

rs180788085 +/−, rs907245739+/+, rs1329117558+/+

IVS2-78 del t;(c.647-78delt)^a+/+

p.L172L+/+

rs1329117558 +/−, rs370615681 +/−