𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Characterization of a deletion mutation involving exons 3–7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome

✍ Scribed by Tadashi Ariga; Masafumi Yamada; Sukeyuki Ito; Mika Iwamura; Mikiro Iseki; Yukio Sakiyama

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
326 KB
Volume
10
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

A case of Wiskott-Aldrich syndrome (WAS) suspected to have a deletion mutation in the WAS protein (WASP) gene had previously been reported (Ariga et al., 1997). Genomic polymerase chain reaction (PCR) suggested that exons 3-7 of the WASP gene were included in the deletion. Present Southern blot studies confirm that the deletion is approximately 2.0 kb in length, involving exons 3-7 and seemed to have been created by the fusion of introns 2 and 7. To characterize the deletion mutation in detail, we analyzed the PCR-amplified fragments of introns 2 and 7 from normal individuals and the fragment suspected of including the deletion junction from the patient. Sequencing of the patient fragment revealed that the deletion mutation involving exons 3-7 of the WASP gene did, indeed, result from the fusion of introns 2 and 7. Hum Mutat 10:310-316, 1997.

📜 SIMILAR VOLUMES

A novel mutation of the protein C gene w
A novel mutation of the protein C gene with a frameshift deletion of 3 base pair F (3380AGG) in exon 6 in type 1 deficiency associated with arterial and venous thrombosis
✍ Takahashi, Toru; Shinohara, Kenji; Nawata, Ryohei; Wakiyama, Machiko; Hamasaki, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 2 views

TABLE I. Colony-Forming Assay From CD34 + Bone Marrow Cells Serum a BFU-E/10 2 CD34 + cells Control 1 50.2 ± 4.6 Control 2 48.5 ± 14.1 Before chemotherapy 24.4 ± 6.2 b After chemotherapy 50.5 ± 6.5 Values are means ± SD of triplicate cultures. a Control 1; normal AB serum, Control 2; serum from a pa

Myelomeningocele and Waardenburg syndrom
Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect
✍ Nye, Jeffrey S.; Balkin, Nancy; Lucas, Heather; Knepper, Paul A.; McLone, David 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB

From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc

Mutations and variants in the cohesion f
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome
✍ Juan Pié; María Concepción Gil-Rodríguez; Milagros Ciero; Eduardo López-Viñas; M 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 1 views

## Abstract Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (__NIPBL__, __SMC1A__, and __SMC3__) of the cohesin complex and its regulators have been found in affected patients. Here, we present