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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.

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Related in: MedlinePlus

Pedigree of the family. Squares represent male. Circles represent females. Affected individuals are indicated by black circles and squares. Unaffected individuals are indicated by white circles and squares. The arrow points at II-5, the proband. Diagonal lines indicate the deceased. *The patient has been examined.
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f1: Pedigree of the family. Squares represent male. Circles represent females. Affected individuals are indicated by black circles and squares. Unaffected individuals are indicated by white circles and squares. The arrow points at II-5, the proband. Diagonal lines indicate the deceased. *The patient has been examined.

Mentions: The proband (II-5) in this family presented with ptosis. She was 54 years old, and bilateral eyelid drooping had gradually developed since age 47. She did not notice the drooping until it affected her vision. She had to tilt her head backward and use the frontalis muscle to raise her eyelid, severely affecting cosmesis. Later, the patient also had dysphagia and dysarthria. The pedigree (Figure 1) was constructed based on interviews with family members and examination of photographs of deceased family members. All members of generation II were affected, except the youngest sister (II-7), who was 41 years old. None of the nine individuals in generation III (aged 12–41 years) was affected yet.


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)

Pedigree of the family. Squares represent male. Circles represent females. Affected individuals are indicated by black circles and squares. Unaffected individuals are indicated by white circles and squares. The arrow points at II-5, the proband. Diagonal lines indicate the deceased. *The patient has been examined.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f1: Pedigree of the family. Squares represent male. Circles represent females. Affected individuals are indicated by black circles and squares. Unaffected individuals are indicated by white circles and squares. The arrow points at II-5, the proband. Diagonal lines indicate the deceased. *The patient has been examined.
Mentions: The proband (II-5) in this family presented with ptosis. She was 54 years old, and bilateral eyelid drooping had gradually developed since age 47. She did not notice the drooping until it affected her vision. She had to tilt her head backward and use the frontalis muscle to raise her eyelid, severely affecting cosmesis. Later, the patient also had dysphagia and dysarthria. The pedigree (Figure 1) was constructed based on interviews with family members and examination of photographs of deceased family members. All members of generation II were affected, except the youngest sister (II-7), who was 41 years old. None of the nine individuals in generation III (aged 12–41 years) was affected yet.

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