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

Bibliographic Data

ID15717752
AuthorsAdnan Yousaf (0000-0002-4919-506X, University of Kansas), Huma Hafeez (University of the Punjab), Muhammad Asim Raza Basra (0000-0002-4242-0025, University of the Punjab), Mabel L Rice (0000-0002-8150-5523, University of Kansas), Muhammad Hashim Raza (0000-0002-7027-5195, University of Kansas, corresponding author), Muhammad Imran Shabbir (0000-0003-4394-1217, International Islamic University, Islamabad)
Year2024
Volume11
Issue9
Pages1063-1063
Publication date2024-08-30
Open AccessYes
TypeARTICLE
VenueChildren (JOURNAL)
Journal identifiersISSN: 2227-9067 • E-ISSN: 2227-9067
PublisherMultidisciplinary Digital Publishing Institute (PUBLISHER • CH)
DOI10.3390/children11091063
PMID39334596
OpenAlexW4402051206
LanguageEN
References cited39

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

Biology · Gene · Genome · Genetics and Neurodevelopmental Disorders · Genomics and Rare Diseases · Language Development and Disorders · Genetics

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