✦ LIBER ✦

Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations

✍ Scribed by Jong-Won Kim; Benjamin B. Liou; Ming-Yang Lai; Elvira Ponce; Gregory A. Grabowski

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 466 KB
Volume: 7
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)7:3<214::aid-humu5>3.0.co;2-a

No coin nor oath required. For personal study only.

✦ Synopsis

Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid fl-glucosidase. Over 40 missense, nonsense, and more complex alleles have been described, primarily in Western populations. From these results, predictive genotype/phenotype correlations have been developed and used to guide genetic counseling and therapy. Only a few mutations have been described in Japanese patients with Gaucher disease and many of these have resulted in severe phenotypes. Although rare, Gaucher Disease occurs in Korean and Chinese (Taiwanese) populations. Sequencing of RT-PCR cDNAs from five unrelated Korean and two sibling Chinese (Taiwanese) Gaucher type l patients identified three new Gaucher disease mutations. These disease alleles encoded V15L, G46E, and N188S substitutions leading to dysfunctional acid P-glucosidases. The G46E was present in two Korean patients and the N188S allele was present in the Korean and Chinese (Taiwanese) populations, suggesting an ancient mutation. The commonality of these two mutations in the Korean and Chinese (Taiwanese) population indicates the need for more extensive screening for these mutations in the Gaucher populations.

📜 SIMILAR VOLUMES

Identification of three novel mutations

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

✍ Eun Kyung Kim; Ook Joon Yoo; Kyu Young Song; Han Wook Yoo; Sang Yong Choi; Sung 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 2 views

Four mutations-R778L, A874V, L1083F, and 2304delC-in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease. Arg778Leu, the most frequently reported mutation of this enzyme, was found in six of eight unrelated patients studied, an allele frequen

Type 1 Gaucher disease: Identification o

Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

✍ Olga Amaral; Eugénia Pinto; Margarida Fortuna; Lucia Lacerda; M.C. Sá Miranda 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB

Familial Paget's disease in The Netherla

Familial Paget's disease in The Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations

✍ E. W. M. Eekhoff; M. Karperien; D. Houtsma; A. H. Zwinderman; C. Dragoiescu; A. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 103 KB

## Abstract ## Objective To estimate the occurrence of familial Paget's disease of bone in The Netherlands, to examine the prevalence of mutations of the sequestosome 1 gene (__SQSTM1__) in identified families, and to assess potential genotype–phenotype associations. ## Methods We performed a ca

Identification of three novel mutations

Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann–Pick disease type A and B

✍ Hiroyuki Ida; Owen M. Rennert; Kihei Maekawa; Yoshikatsu Eto 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB 👁 2 views

Identification of three novel mutations

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia

✍ Pascale Trioche; Jeanne Francoual; Jacqueline Chalas; Liliane Capel; Olivier Ber 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 1 views

Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was

Identification of three novel mutations

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

✍ Katell Peoc'h; Philippe Manivet; Patrice Beaudry; Françoise Attane; Gérard Besso 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 1 views

Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. Brain extracts ca