✦ LIBER ✦

Deletion of exon 16 of the dystrophin gene is not associated with disease

✍ Scribed by Marianne Schwartz; Morten Dunø; Anne Lise Palle; Thomas Krag; John Vissing

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 163 KB
Volume: 28
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9477

No coin nor oath required. For personal study only.

✦ Synopsis

The DNA of a male harbored a deletion of exon 16 as well as most of introns 15 and 16 of the dystrophin gene. The person was completely healthy, with universal normal muscle strength, and normal muscle histology and creatine kinase levels. The deletion was also present in DNA from a muscle biopsy, excluding mosaicism as an explanation for the phenotype. We conclude that the protein segment encoded by exon 16 of the dystrophin gene is of no importance for the essential function of dystrophin. The findings suggest that even large gene re-arrangements of the dystrophin gene may not always be disease-causing, and caution a diagnosis of dystrophinopathy in sporadic cases of single exon in-frame deletions.

📜 SIMILAR VOLUMES

Identification of a one-basepair deletio

Identification of a one-basepair deletion in exon 6 of the dystrophin gene

✍ Gūl Nihan Kavaslar; Milhan Telatar; Piraye Serdarog̃lu; Feza Deymeer; Coşkun Õzd 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 1 views

Duplication of the ZIC2 gene is not asso

Duplication of the ZIC2 gene is not associated with holoprosencephaly

✍ Vaidehi Jobanputra; Alanna Burke; Anyane-Yeboa Kwame; Anita Shanmugham; Maryam S 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 209 KB

## Abstract Cytogenetic testing using genomic microarrays presents a clinical challenge when data regarding the phenotypic consequences of the genomic alteration are not available. We describe a chromosome 13q32.3 duplication discovered by microarray testing in a fetus with a prenatally detected ap

Alzheimer disease is not associated with

Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes

✍ Taylor, Alison ;Ezquerra, Mario ;Bagri, Gurjog ;Yip, Agustin ;Goumidi, Louisa ;C 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 2 views

## Abstract Hypertension has been implicated as a risk factor for Alzheimer disease (AD) and dementia in epidemiological studies of humans. It is thus possible that there are common genetic determinants for hypertension and AD. Epidemiological, clinical, and experimental data suggest that the renin

Amplification of ten deletion-rich exons

Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy

✍ Kitoh, Yoshihiko ;Matsuo, Masafumi ;Nishio, Hisahide ;Takumi, Toru ;Nakajima, To 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 485 KB 👁 3 views

Autophagy gene ATG16L1 but not IRGM is a

Autophagy gene ATG16L1 but not IRGM is associated with Crohn's disease in Canadian children

✍ Devendra K. Amre; David R. Mack; Kenneth Morgan; Alfreda Krupoves; Irina Costea; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 2 views

Background: Recent genome-wide studies have implicated the autophagy genes ATG16L1 and IRGM in the pathogenesis of Crohn's disease (CD). We investigated whether these genes were associated with CD in Canadian children. ## Methods: A case-control study was carried out at 2 pediatric gastroenterolog

Classical Noonan syndrome is not associa

Classical Noonan syndrome is not associated with deletions of 22q11

✍ Robin, Nathaniel H. ;Sellinger, Beatrice ;McDonald-McGinn, Donna ;Zackai, Elaine 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 3 views