Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Table 2 Biochemical and molecular analysis of adult patients with type I Gaucher disease

Patient ID	Biochemical analysis		Molecular analysis			Allele Frequency		dbSNP reference sequence	Reference
Patient ID	Plasma Chitotriosidase (nmol/hr/ml plasma)	β-Glucosidase (nmol/hr/mg protein)	Variant location (GBA gene)	Nucleotide change (Amino Acid change)	Zygosity	1000 Genomes	ExAC	dbSNP reference sequence	Reference
P₁	54,503.7	2.5^#	Exon 10	c.1448T>C (Leu444Pro)	Het	0.0034	0.0031	rs421016	[18]
P₁	54,503.7	2.5^#	Exon 8	c.1102C>T (Arg329Cys)	Het	NR	0.00002472	rs374306700	[18]
P₂	72,000.0	1.2^#	Exon 10	c.1459G>A (Ala448Thr)	Hom	NR	NR	rs878853317	In this study
P₃	0.0	1.2^#	Exon 10	c.1459G>A (Ala448Thr)	Hom	NR	NR	rs878853317	In this study
P₄	14,378.0	0.24^#	Exon 8	c.1060G>A (Asp315Asn)	Hom	NR	0.000008243	rs398123526	[24]
P₅	1670.0	3.5^†	Exon 10	c.1448T>C (Leu444Pro)	Het	0.0034	0.0031	rs421016	[18]
P₅	1670.0	3.5^†	Exon 3	c.167T>G (Val17Gly)	Het	NR	NR	rs878853318	In this study
P₆	102.4	4.65^†	Exon 10	c.1459G>A (Ala448Thr)	Het	NR	NR	rs878853317	In this study
P₆	102.4	4.65^†	Exon 5	c.492C>G (Ser125Arg)	Het	NR	0.00003295	–	[24]
P₇	54,503.7	1.5^#	Exon 9	c.1300C>T (Arg395Cys)	Hom	NR	NR	–	[18]

Abbreviations: The Single Nucleotide Polymorphism database (dbSNP), The Exome Aggregation Consortium (ExAC), Heterozygous (Het), Homozygous (Hom), Not Reported (NR)
Plasma Chitotriosidase normal range: 28.66–62.94 nmol/hr/ml plasma
^#β-Glucosidase enzyme activity done at our center (normal range: 4.0–32.0 nmol/hr/mg protein)
^†β-Glucosidase enzyme activity done at other centers (normal range: 10.0–45.0 nmol/hr/mg protein)
The above variants refers to the GBA gene with transcript ID ENST00000327247.5 and reference sequence number NM_001005741.2

ISSN: 1471-2350