Table 2.
Genotype–phenotype correlations in Type 2 Gaucher disease
| Patients with manifestations in utero | |||
|---|---|---|---|
| Ethnic background | Genotype | Clinical presentation | Reference |
| Afghan | recD/recD | Hydrops | [108] |
| Ashkenazi Jewish | recA/IVS 10+2 T>G | Hydrops | [109] |
| Turkish | c.533delC/c.533delC | Hydrops | [6] |
| Cape Verdean | His311Arg/His311Arg | Hydrops | [110] |
| North American | recB/recB | Hydrops | [10] |
| North American | recD/recD | Hydrops | [73] |
| Lebanese | recD/recD | Ichthyosis/Hydrops | [94] |
| Greek | c.[1505+1-1505+12ins 1505, G>A]//recNci | Ichthyosis/Hydrops | [111] |
| Pakistani | Cys16Ser/Cys16Ser | Hydrops | [112] |
| Patients diagnosed at birth | |||
|---|---|---|---|
| Ethnic background | Genotype | Clinical presentation | Reference |
| Dutch/Surinamese | Arg359X/Val398Phe | Ichthyosis | [110] |
| Australian | c.1263-1317del/Arg257Gln | Ichthyosis | [7] |
| Greek | recC/His255Gln | Hepatosplenomegaly | [113] |
| Lebanese | Arg120Trp/Ser196Pro | Ichthyosis | [114] |
| Lebanese | Ser196 Pro/Ser196Pro | Respiratory difficulty | [73] |
| North American | Phe259Leu/Asn188Lys | Opisthotonus | [73] |
| North American | c.1263-1317del/Arg285His | Unknown | [73] |
| Ashkenazi Jewish | Leu444Pro/Leu444Pro+Ala456Pro | Strabismus | [67] |
| Spanish | Leu444Pro+Glu326Lys/Pro182Leu | Ichthyosis | [115] |
| Patients identified after several months of age | |||
|---|---|---|---|
| Ethnic Background | Genotype | Age at presentation | Reference |
| African American | recE/Glu41Lys+Arg131Cys | 8 months | [116] |
| North American | Leu444Pro/Gly202Arg | 8 months | [10] |
| North American | Leu444Pro/Unknown | 7 months | [10] |
| North American | Leu444Pro/recF | 5 months | [10] |
| Mexican | Arg131Leu/Arg131Leu | 5 months | [8] |
| Swedish | Leu444Pro/c.330delAla | 3 months | [73] |
| Belgian | Gly202Arg/Gly202Arg | 6 months | [73] |
| North American | recG/Leu444Pro/Arg257Gln | 6 months | [73] |
| North American | Leu444Pro/IVS +1G>A | 4 months | [73] |
| North American | Gly202Arg/Gly202Arg | 5 months | [73] |
| Kenyan/Filipino | Leu444Pro/IVS +1G>A | 4 months | [73] |
| Chinese | Phe213Ile/Asn382Lys | 10 months | [117] |
| Chinese | Phe213Ile/Leu383Arg | 7 months | [117] |
| Chinese | Tyr363Cys/Unknown | 5 months | [117] |
| Chinese | Met416Val/c.1263-1317del55 | 8 months | [117] |
| Spanish | Leu444Pro/Ile260Thr | 6 months | [115] |
| Patient diagnosed near or after first birthday (intermediate phenotype) | ||||
|---|---|---|---|---|
| Ethnic Background | Genotype | Age at diagnosis | Age at death | Reference |
| Black | Leu444Pro/Leu444Pro | 20 months | 3 years | [36] |
| French | Rec Ncil/Val394Leu | 12 months | 6 years | [36] |
| North American | Leu444Pro/Tyr304Cys | 12 months | 2 years | [36] |
| North American | Phe213Ile/Ser107Leu | 11 months | 3.5 years | [36] |
| North American | Leu444Pro/Gly202Arg | 11 months | 4 years | [36] |
| Chinese | Pro122Leu/Val375Leu | 12 months | unknown | [117] |
| Chinese | Leu385Pro/Leu444Pro | 11 months | 1.5 years | [117] |
Genotypes are presented using traditional nomenclature. The various forms of rec refer to different recombinant alleles. RecA carries the pseudogene sequence beginning from intron 3, and the crossover site is in intron 3; recB carries the 55-bp deletion in exon 9, as well as point mutations Asp409His, Leu444Pro, Ala456Pro, and Val460Val, and the crossover site is in the intron 8 or the beginning of exon 9 region; recC carries mutations Asp409His, Leu444Pro, Ala456Pro, and Val460Val, and the crossover site is in exon 9; recD, E, F carry mutations Leu444Pro, Ala456Pro, and Val460Val, and the crossover sites include exon 9-intron 9, intron 9 or intron 9-exon 10, recG carries the pseudogene sequence beginning from the 3′ UTR or has a duplicated pseudogene with a fusion between MTX and pseudometaxin, and the crossover site is in the 3′UTR or in MTX gene; recNci carries mutations Leu444Pro, Ala456Pro and Val460Val, and the crossover site is at the end of exon 9 or intron 9.