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Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

Chishti MS, Lee K, McDonald ML, Hassan MJ, Ansar M, Ahmad W, Leal SM - J. Hum. Genet. (2009)

Bottom Line: To map the locus, a whole-genome scan was carried out using DNA samples from a consanguineous seven-generational Pakistani family with profound prelingual ARNSHI.The DFNB71 region of homozygosity and 3-unit support interval is flanked by markers D8S1130 and D8S1786.This region has a genetic distance of 19.1 cM and contains 10.6 Mb of sequence.

View Article: PubMed Central - PubMed

Affiliation: Department of Biochemistry, Quaid-I-Azam University, Islamabad, Pakistan.

ABSTRACT
A novel ARNSHI (autosomal recessive non-syndromic hearing impairment) locus, DFNB71, was localized to 8p22-21.3. To map the locus, a whole-genome scan was carried out using DNA samples from a consanguineous seven-generational Pakistani family with profound prelingual ARNSHI. A maximum multipoint LOD score of 4.2 occurred at marker D8S261. The DFNB71 region of homozygosity and 3-unit support interval is flanked by markers D8S1130 and D8S1786. This region has a genetic distance of 19.1 cM and contains 10.6 Mb of sequence.

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Related in: MedlinePlus

Drawing of pedigree 4216. Black symbols represent individuals with hearing impairment and clear symbols represent unaffected individuals. Haplotypes are shown beneath each genotyped individual. The DFNB71 haplotype is enclosed in a rectangle.
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Figure 1: Drawing of pedigree 4216. Black symbols represent individuals with hearing impairment and clear symbols represent unaffected individuals. Haplotypes are shown beneath each genotyped individual. The DFNB71 haplotype is enclosed in a rectangle.

Mentions: With the prior approval from the Institutional Review Board of Quaid-I-Azam University, Islamabad, Pakistan and Baylor College of Medicine and Affiliated Hospitals the study was initiated and informed consent was obtained from all family members who participated in the study. Pedigree 4216 was constructed on the basis of information collected from the family members (Figure 1). Hearing impaired and non-hearing impaired family members underwent audiometric testing. Hearing impaired family members have prelingual profound HI which affects all frequencies. Figure 2 displays the audiogram for a hearing impaired family member (individual 34) that displays bilateral, profound HI that affects all frequencies and the audiogram for a family member without hearing impairment (individual 38) whose hearing is within the normal range (Figure 2). The hearing impaired members of pedigree 4216 use sign language as their primary means of communication. The family members with hearing impairment also underwent a physical examination for defects in ear morphology, vision, mental retardation and other clinical features that could indicate that the HI is syndromic. There was no evidence in this kindred that the HI belongs to a syndrome or that there is gross vestibular involvement.


Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

Chishti MS, Lee K, McDonald ML, Hassan MJ, Ansar M, Ahmad W, Leal SM - J. Hum. Genet. (2009)

Drawing of pedigree 4216. Black symbols represent individuals with hearing impairment and clear symbols represent unaffected individuals. Haplotypes are shown beneath each genotyped individual. The DFNB71 haplotype is enclosed in a rectangle.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2747327&req=5

Figure 1: Drawing of pedigree 4216. Black symbols represent individuals with hearing impairment and clear symbols represent unaffected individuals. Haplotypes are shown beneath each genotyped individual. The DFNB71 haplotype is enclosed in a rectangle.
Mentions: With the prior approval from the Institutional Review Board of Quaid-I-Azam University, Islamabad, Pakistan and Baylor College of Medicine and Affiliated Hospitals the study was initiated and informed consent was obtained from all family members who participated in the study. Pedigree 4216 was constructed on the basis of information collected from the family members (Figure 1). Hearing impaired and non-hearing impaired family members underwent audiometric testing. Hearing impaired family members have prelingual profound HI which affects all frequencies. Figure 2 displays the audiogram for a hearing impaired family member (individual 34) that displays bilateral, profound HI that affects all frequencies and the audiogram for a family member without hearing impairment (individual 38) whose hearing is within the normal range (Figure 2). The hearing impaired members of pedigree 4216 use sign language as their primary means of communication. The family members with hearing impairment also underwent a physical examination for defects in ear morphology, vision, mental retardation and other clinical features that could indicate that the HI is syndromic. There was no evidence in this kindred that the HI belongs to a syndrome or that there is gross vestibular involvement.

Bottom Line: To map the locus, a whole-genome scan was carried out using DNA samples from a consanguineous seven-generational Pakistani family with profound prelingual ARNSHI.The DFNB71 region of homozygosity and 3-unit support interval is flanked by markers D8S1130 and D8S1786.This region has a genetic distance of 19.1 cM and contains 10.6 Mb of sequence.

View Article: PubMed Central - PubMed

Affiliation: Department of Biochemistry, Quaid-I-Azam University, Islamabad, Pakistan.

ABSTRACT
A novel ARNSHI (autosomal recessive non-syndromic hearing impairment) locus, DFNB71, was localized to 8p22-21.3. To map the locus, a whole-genome scan was carried out using DNA samples from a consanguineous seven-generational Pakistani family with profound prelingual ARNSHI. A maximum multipoint LOD score of 4.2 occurred at marker D8S261. The DFNB71 region of homozygosity and 3-unit support interval is flanked by markers D8S1130 and D8S1786. This region has a genetic distance of 19.1 cM and contains 10.6 Mb of sequence.

Show MeSH
Related in: MedlinePlus