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Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.

Yang H, Li S, Xiao X, Wang P, Guo X, Zhang Q - Mol. Vis. (2012)

Bottom Line: The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.The phenotypes of the patients with the mutations showed great variability.Our findings provide an overview of the mutation spectrum and frequency of FZD4 and LRP5 in Chinese patients with FEVR and emphasize the complexity of FEVR mutations and phenotypes.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.

ABSTRACT

Purpose: To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population.

Methods: Clinical data and genomic DNA were collected for patients from 49 families with FEVR. The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.

Results: Eleven mutations were detected in 11 of the 49 families (22.4%), including five mutations in the FZD4 gene in six families and six mutations in the LRP5 gene in five families. Of the 11 mutations, eight were novel. Two families had the same FZD4 mutation, and one family had compound heterozygous mutations in LRP5. The phenotypes of the patients with the mutations showed great variability.

Conclusions: Our findings provide an overview of the mutation spectrum and frequency of FZD4 and LRP5 in Chinese patients with FEVR and emphasize the complexity of FEVR mutations and phenotypes.

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Related in: MedlinePlus

Pedigrees of 11 families with FZD4 or LRP5 mutations. A + sign represents a normal allele, and a - sign indicates a variant. The proband in family QT191 had compound heterozygous mutation, while his mother had a heterozygous c.2484C>G: variant and his father had a heterozygous c.2626G>A variant. The squares brackets around II:1 in family QT476 indicated an adopted proband.
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f2: Pedigrees of 11 families with FZD4 or LRP5 mutations. A + sign represents a normal allele, and a - sign indicates a variant. The proband in family QT191 had compound heterozygous mutation, while his mother had a heterozygous c.2484C>G: variant and his father had a heterozygous c.2626G>A variant. The squares brackets around II:1 in family QT476 indicated an adopted proband.

Mentions: Eleven heterozygous mutations (Figure 1), including eight novel and three known mutations, were identified in 11 of the 49 (22.4%) families with FEVR, including five FZD4 mutations in six families and six LRP5 mutations in five families (Table 1). Of the 11 families with FZD4 and LRP5 mutations, six had a familial history of FEVR, and five were isolated cases (Figure 2). Two families had the same FZD4 mutation, and one family had compound heterozygous mutations in LRP5.


Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.

Yang H, Li S, Xiao X, Wang P, Guo X, Zhang Q - Mol. Vis. (2012)

Pedigrees of 11 families with FZD4 or LRP5 mutations. A + sign represents a normal allele, and a - sign indicates a variant. The proband in family QT191 had compound heterozygous mutation, while his mother had a heterozygous c.2484C>G: variant and his father had a heterozygous c.2626G>A variant. The squares brackets around II:1 in family QT476 indicated an adopted proband.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3472927&req=5

f2: Pedigrees of 11 families with FZD4 or LRP5 mutations. A + sign represents a normal allele, and a - sign indicates a variant. The proband in family QT191 had compound heterozygous mutation, while his mother had a heterozygous c.2484C>G: variant and his father had a heterozygous c.2626G>A variant. The squares brackets around II:1 in family QT476 indicated an adopted proband.
Mentions: Eleven heterozygous mutations (Figure 1), including eight novel and three known mutations, were identified in 11 of the 49 (22.4%) families with FEVR, including five FZD4 mutations in six families and six LRP5 mutations in five families (Table 1). Of the 11 families with FZD4 and LRP5 mutations, six had a familial history of FEVR, and five were isolated cases (Figure 2). Two families had the same FZD4 mutation, and one family had compound heterozygous mutations in LRP5.

Bottom Line: The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.The phenotypes of the patients with the mutations showed great variability.Our findings provide an overview of the mutation spectrum and frequency of FZD4 and LRP5 in Chinese patients with FEVR and emphasize the complexity of FEVR mutations and phenotypes.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.

ABSTRACT

Purpose: To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population.

Methods: Clinical data and genomic DNA were collected for patients from 49 families with FEVR. The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.

Results: Eleven mutations were detected in 11 of the 49 families (22.4%), including five mutations in the FZD4 gene in six families and six mutations in the LRP5 gene in five families. Of the 11 mutations, eight were novel. Two families had the same FZD4 mutation, and one family had compound heterozygous mutations in LRP5. The phenotypes of the patients with the mutations showed great variability.

Conclusions: Our findings provide an overview of the mutation spectrum and frequency of FZD4 and LRP5 in Chinese patients with FEVR and emphasize the complexity of FEVR mutations and phenotypes.

Show MeSH
Related in: MedlinePlus