Genome-Wide Mapping of Consanguineous Families Confirms Previously Implicated Gene Loci and Suggests New Loci in Specific Language Impairment (SLI)-Reference-Cited by-同舟云学术

Genome-Wide Mapping of Consanguineous Families Confirms Previously Implicated Gene Loci and Suggests New Loci in Specific Language Impairment (SLI)

Published:2024-08-30 Issue:9 Volume:11 Page:1063
ISSN:2227-9067
Container-title:Children
language:en
Short-container-title:Children

Author:

Yousaf Adnan¹²,Hafeez Huma³,Basra Muhammad Asim Raza³,Rice Mabel L.²,Raza Muhammad Hashim²^ORCID,Shabbir Muhammad Imran¹

Affiliation:

1. Department of Biological Sciences, International Islamic University, Islamabad 45500, Pakistan

2. Speech-Language-Hearing: Sciences & Disorders, University of Kansas, Lawrence, KS 66045-7555, USA

3. Centre for Clinical and Nutritional Chemistry, School of Chemistry, University of the Punjab, New Campus Lahore, Lahore 54590, Pakistan

Abstract

Specific language impairment (SLI) is a developmental disorder with substantial genetic contributions. A genome-wide linkage analysis and homozygosity mapping were performed in five consanguineous families from Pakistan. The highest LOD scores of 2.49 at 12p11.22-q11.21 in family PKSLI-31 and 1.92 at 6p in family PKSLI-20 were observed. Homozygosity mapping showed a loss of heterozygosity on 1q25.3-q32.2 and 2q36.3-q37.3 in PKSLI-20. A loss of heterozygosity mapped, in PKSLI-31 and PKSLI-34 flanks, NFXL1 and CNTNAP2, which are genes previously identified in SLI. Our findings report novel SLI loci and corroborate previously reported SLI loci, indicating the utility of a family-based approach.

Funder

National Institute on Deafness and Other Communication Disorders

Publisher

MDPI AG

Link

https://www.mdpi.com/2227-9067/11/9/1063/pdf

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