Limits...
A GCG expansion (GCG)₁₁ in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.

Ye J, Zhang H, Zhou Y, Wu H, Wang C, Shi X - Mol. Vis. (2011)

Bottom Line: Genomic DNA was extracted from peripheral blood leukocytes of every available family member, and the fragment flanking the (GCG)(n) of the PABPN1 gene was amplified by PCR.Mutations were screened by DNA sequencing.Mutation sequencing demonstrated that (GCG)₆ in the wild PABPN1 gene was expanded to heterozygous (GCG)₁₁ in all affected family members and in some but not all unaffected members.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, the 2nd Affiliated Hospital of Zhejiang University, College of Medicine, Hangzhou, Zhejiang, China. yejuan@zju.edu.cn

ABSTRACT

Purpose: To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD).

Methods: Clinical and ophthalmologic examinations were conducted on available living family members from three generations. Genomic DNA was extracted from peripheral blood leukocytes of every available family member, and the fragment flanking the (GCG)(n) of the PABPN1 gene was amplified by PCR. Mutations were screened by DNA sequencing. Photographs of deceased family members were examined for signs of OPMD.

Results: Clinical features of OPMD were found in all patients in generation II except the youngest sister, and no clinical manifestations were found in generation III. Mutation sequencing demonstrated that (GCG)₆ in the wild PABPN1 gene was expanded to heterozygous (GCG)₁₁ in all affected family members and in some but not all unaffected members.

Conclusions: In a Chinese family with autosomal dominantly inherited OPMD, a heterozygous (GCG)₁₁ expansion was identified in all affected family members and in several young unaffected members.

Show MeSH

Related in: MedlinePlus

Photograph of II-5. She is 63 years old, has had gradual progressive ptosis since she was 50, and suffers a facial weakness.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC3108037&req=5

f2: Photograph of II-5. She is 63 years old, has had gradual progressive ptosis since she was 50, and suffers a facial weakness.

Mentions: Clinical and genetic information was obtained from 12 family members (11 women, 1 man; Table 1). All of the affected family members had begun to develop bilateral and symmetric eyelid drooping in approximately their fifth decade, followed later by dysphagia and dysarthria, and the affected members recalled that their father (I-1) also developed drooping eyelids when he was approximately 50 years old. The oldest sister (II-1) could barely see, since even when she used the frontalis muscle, the fissure of palpebrae was only 3 mm and the levator function was 1 mm (Figure 2). She had difficulty swallowing solid foods, such as certain vegetables. II-4 died in a traffic accident at age 40, and he had not developed severe ptosis by that time.


A GCG expansion (GCG)₁₁ in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.

Ye J, Zhang H, Zhou Y, Wu H, Wang C, Shi X - Mol. Vis. (2011)

Photograph of II-5. She is 63 years old, has had gradual progressive ptosis since she was 50, and suffers a facial weakness.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108037&req=5

f2: Photograph of II-5. She is 63 years old, has had gradual progressive ptosis since she was 50, and suffers a facial weakness.
Mentions: Clinical and genetic information was obtained from 12 family members (11 women, 1 man; Table 1). All of the affected family members had begun to develop bilateral and symmetric eyelid drooping in approximately their fifth decade, followed later by dysphagia and dysarthria, and the affected members recalled that their father (I-1) also developed drooping eyelids when he was approximately 50 years old. The oldest sister (II-1) could barely see, since even when she used the frontalis muscle, the fissure of palpebrae was only 3 mm and the levator function was 1 mm (Figure 2). She had difficulty swallowing solid foods, such as certain vegetables. II-4 died in a traffic accident at age 40, and he had not developed severe ptosis by that time.

Bottom Line: Genomic DNA was extracted from peripheral blood leukocytes of every available family member, and the fragment flanking the (GCG)(n) of the PABPN1 gene was amplified by PCR.Mutations were screened by DNA sequencing.Mutation sequencing demonstrated that (GCG)₆ in the wild PABPN1 gene was expanded to heterozygous (GCG)₁₁ in all affected family members and in some but not all unaffected members.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, the 2nd Affiliated Hospital of Zhejiang University, College of Medicine, Hangzhou, Zhejiang, China. yejuan@zju.edu.cn

ABSTRACT

Purpose: To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD).

Methods: Clinical and ophthalmologic examinations were conducted on available living family members from three generations. Genomic DNA was extracted from peripheral blood leukocytes of every available family member, and the fragment flanking the (GCG)(n) of the PABPN1 gene was amplified by PCR. Mutations were screened by DNA sequencing. Photographs of deceased family members were examined for signs of OPMD.

Results: Clinical features of OPMD were found in all patients in generation II except the youngest sister, and no clinical manifestations were found in generation III. Mutation sequencing demonstrated that (GCG)₆ in the wild PABPN1 gene was expanded to heterozygous (GCG)₁₁ in all affected family members and in some but not all unaffected members.

Conclusions: In a Chinese family with autosomal dominantly inherited OPMD, a heterozygous (GCG)₁₁ expansion was identified in all affected family members and in several young unaffected members.

Show MeSH
Related in: MedlinePlus