✦ LIBER ✦

Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation

✍ Scribed by Iris Gluck; Marsha Zeigler; Ruth Bargal; Elena Schiff; Gideon Bach

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 44 KB
Volume: 12
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)12:2<136::aid-humu12>3.0.co;2-y

No coin nor oath required. For personal study only.

✦ Synopsis

A novel single base pair deletion in the acid sphingomyelinase (ASM) gene ( 677delT in the cDNA) was identified in 12 Israeli Arab families with Niemann-Pick disease (NPD) type A. This deletion creates a premature stop codon which explains the complete deficiency of ASM activity in these patients and the severe clinical manifestation. A single mutation in 12 families living in a relatively small geographical region suggests a founder effect and explains the high frequency of this disease in this population. This is in contrast to multiple mutations found in two other lysosomal storage disorders prevalent in this population, namely, Hurler disease (MPSI) and metachromatic leukodystrophy. Mutation analysis is therefore an important tool in characterizing the grounds for the high frequency of inherited diseases as well as a basis for prevention programs for prevalent diseases through carrier identification and the ascertainment of high risk families.

📜 SIMILAR VOLUMES

A novel missense mutation of theSMPD1gen

A novel missense mutation of theSMPD1gene in a Taiwanese patient with type B Niemann–Pick disease

✍ Min-Yu Lan; Shyh-Jer Lin; Ying-Fa Chen; Cheng-Huei Peng; Yu-Fan Liu 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 144 KB

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

Type A Niemann-Pick disease: A frameshif

Type A Niemann-Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

✍ Orna Levran; Robert J. Desnick; Edward H. Schuchman 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 297 KB

Antisense oligonucleotide treatment for

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

✍ Laura Rodríguez-Pascau; Maria Josep Coll; Lluïsa Vilageliu; Daniel Grinberg 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 498 KB 👁 1 views

Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 o

Identification of a missense mutation (S

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick disease

✍ Tsutomu Takahashi; Robert J. Desnick; Goro Takada; Edward H. Schuchman 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB

Characterization of the mutations in the

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

✍ R. Parvari; S. Moses; E. Hershkovitz; R. Carmi; N. Bashan 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 620 KB