Gaucher Disease in the Neonate: A Distinct Gaucher Phenotype Is Analogous to a Mouse Model Created by Targeted Disruption of the Glucocerebrosidase Gene

ABSTRACT: A group of neonates with Gaucher disease with a particularly devastating clinical course is described. The phenotype of these infants is analogous to that of a Gaucher mouse, which was created by targeted disruption of the mouse glucocerebroside gene. Similar to the homozygous mutant mice with glucocerebrosidase deficiency, these infants present at or shortly after birth, have rapidly progressing fulminant disease, and many have associated ichthyotic skin and/or hydrops fetalis. This transgenetic mouse model of Gaucher disease has helped us to appreciate a distinct Gaucher phenotype. Potentially, as this technology is applied to create other animal models of metabolic diseases, it may enable the recognition of other, as yet unappreciated presentations of inherited disorders.

[1]  D. Sherer,et al.  Congenital ichthyosis with restrictive dermopathy and gaucher disease: A new syndrome with associated prenatal diagnostic and pathology findings , 1993, Obstetrics and gynecology.

[2]  E. Ginns,et al.  Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene , 1992, Nature.

[3]  S. Tsuji,et al.  DNA mutation analysis of Gaucher patients. , 1992, American journal of medical genetics.

[4]  A. Berry,et al.  Collodion babies with Gaucher's disease--a further case. , 1991, Archives of disease in childhood.

[5]  B. Theophilus,et al.  Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. , 1991, DNA and cell biology.

[6]  S. Wilder,et al.  Prevalent and rare mutations among Gaucher patients. , 1990, Gene.

[7]  D. Williams.  Embryonic stem cells as targets for gene transfer: a new approach to molecular manipulation of the murine hematopoietic system. , 1990, Bone marrow transplantation.

[8]  E. Ginns,et al.  Gaucher's disease: advances and challenges. , 1989, Advances in pediatrics.

[9]  R. Choong,et al.  Collodion babies with Gaucher's disease. , 1988, Archives of disease in childhood.

[10]  A. Bradley,et al.  A potential animal model for Lesch–Nyhan syndrome through introduction of HPRT mutations into mice , 1987, Nature.

[11]  R. Desnick,et al.  Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. , 1987, American journal of human genetics.

[12]  M. Williams.  A new look at the ichthyoses: disorders of lipid metabolism. , 1986, Pediatric dermatology.

[13]  S. Panny,et al.  Hydrops fetalis associated with Gaucher disease. , 1984, Pathology, research and practice.

[14]  D. J. Lacey,et al.  Correlating auditory evoked and brainstem histologic abnormalities in infantile Gaucher's disease , 1984, Neurology.

[15]  P. Elias.  Epidermal Lipids, Membranes, and Keratinization. , 1981, International journal of dermatology.

[16]  M. Yoshida,et al.  Fetal pathology and ultrastructure of neuropathic Gaucher's disease. , 1976, Advances in experimental medicine and biology.

[17]  F. González-Sastre,et al.  Infantile Gaucher's disease , 1974, Neurology.

[18]  M. Groll,et al.  Hydrops fetalis due to infantile Gaucher's disease. , 1973, The Journal of pediatrics.

[19]  C. Epstein,et al.  Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology. , 1972, The Journal of pediatrics.

[20]  M. Sacks,et al.  The infantile form of Gaucher's disease in an infant of Jewish Sephardi origin. , 1970, Pediatrics.

[21]  J. Naylor,et al.  The Genetic Mechanism of Gaucher's Disease1,2 , 1962 .

[22]  Katsuji Katō,et al.  Gaucher's disease in early infancy , 1938 .