RT Journal Article
SR Electronic
T1 Type 2 Gaucher disease: the collodion baby phenotype revisited
JF Archives of Disease in Childhood - Fetal and Neonatal Edition
JO Arch Dis Child Fetal Neonatal Ed
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP F163
OP F166
DO 10.1136/fn.82.2.F163
VO 82
IS 2
A1 Stone, D L
A1 Carey, W F
A1 Christodoulou, J
A1 Sillence, D
A1 Nelson, P
A1 Callahan, M
A1 Tayebi, N
A1 Sidransky, E
YR 2000
UL http://fn.bmj.com/content/82/2/F163.abstract
AB The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder and enzyme deficiency were directly related. This paper details the clinical and molecular characterisation of 6 cases of type 2 Gaucher disease presenting with the collodion baby phenotype. The identified mutant glucocerebrosidase alleles include two novel mutations (S196P and R131L) and two rare point mutations (R120W and R257Q), as well as alleles resulting from recombination with the nearby glucocerebrosidase pseudogene. There is significant genotypic heterogeneity in this rare subset of patients with type 2 Gaucher disease. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis in the newborn period.