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Foundation","award":["ASIP\/R&D\/HEC\/2023\/10005\/73043\/88"],"award-info":[{"award-number":["ASIP\/R&D\/HEC\/2023\/10005\/73043\/88"]}]},{"name":"Retinal Research Foundation","award":["EY022356"],"award-info":[{"award-number":["EY022356"]}]},{"name":"Retinal Research Foundation","award":["EY018571"],"award-info":[{"award-number":["EY018571"]}]},{"name":"Retinal Research Foundation","award":["EY002520"],"award-info":[{"award-number":["EY002520"]}]},{"name":"Retinal Research Foundation","award":["P30EY010572"],"award-info":[{"award-number":["P30EY010572"]}]},{"name":"Retinal Research Foundation","award":["EY09076"],"award-info":[{"award-number":["EY09076"]}]},{"name":"Retinal Research Foundation","award":["EY030499"],"award-info":[{"award-number":["EY030499"]}]},{"name":"Retinal Research Foundation","award":["S10OD023469"],"award-info":[{"award-number":["S10OD023469"]}]},{"name":"Retinal Research Foundation","award":["P30 EY034070"],"award-info":[{"award-number":["P30 EY034070"]}]},{"name":"NIH","award":["ASIP\/R&D\/HEC\/2023\/10005\/73043\/88"],"award-info":[{"award-number":["ASIP\/R&D\/HEC\/2023\/10005\/73043\/88"]}]},{"name":"NIH","award":["EY022356"],"award-info":[{"award-number":["EY022356"]}]},{"name":"NIH","award":["EY018571"],"award-info":[{"award-number":["EY018571"]}]},{"name":"NIH","award":["EY002520"],"award-info":[{"award-number":["EY002520"]}]},{"name":"NIH","award":["P30EY010572"],"award-info":[{"award-number":["P30EY010572"]}]},{"name":"NIH","award":["EY09076"],"award-info":[{"award-number":["EY09076"]}]},{"name":"NIH","award":["EY030499"],"award-info":[{"award-number":["EY030499"]}]},{"name":"NIH","award":["S10OD023469"],"award-info":[{"award-number":["S10OD023469"]}]},{"name":"NIH","award":["P30 EY034070"],"award-info":[{"award-number":["P30 EY034070"]}]},{"name":"Gavin Herbert Eye Institute at the University of California, Irvine","award":["ASIP\/R&D\/HEC\/2023\/10005\/73043\/88"],"award-info":[{"award-number":["ASIP\/R&D\/HEC\/2023\/10005\/73043\/88"]}]},{"name":"Gavin Herbert Eye Institute at the University of California, Irvine","award":["EY022356"],"award-info":[{"award-number":["EY022356"]}]},{"name":"Gavin Herbert Eye Institute at the University of California, Irvine","award":["EY018571"],"award-info":[{"award-number":["EY018571"]}]},{"name":"Gavin Herbert Eye Institute at the University of California, Irvine","award":["EY002520"],"award-info":[{"award-number":["EY002520"]}]},{"name":"Gavin Herbert Eye Institute at the University of California, Irvine","award":["P30EY010572"],"award-info":[{"award-number":["P30EY010572"]}]},{"name":"Gavin Herbert Eye Institute at the University of California, Irvine","award":["EY09076"],"award-info":[{"award-number":["EY09076"]}]},{"name":"Gavin Herbert Eye Institute at the University of California, Irvine","award":["EY030499"],"award-info":[{"award-number":["EY030499"]}]},{"name":"Gavin Herbert Eye Institute at the University of California, Irvine","award":["S10OD023469"],"award-info":[{"award-number":["S10OD023469"]}]},{"name":"Gavin Herbert Eye Institute at the University of California, Irvine","award":["P30 EY034070"],"award-info":[{"award-number":["P30 EY034070"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Leber congenital amaurosis (LCA) is a congenital onset severe form of inherited retinal dystrophy (IRD) and a common cause of pediatric blindness. Disease-causing variants in at least 14 genes are reported to predispose LCA phenotype. LCA is inherited as an autosomal recessive disease. It can be an isolated eye disorder or as part of a syndrome, such as Senior Loken or Joubert syndrome. Sequencing studies from consanguineous populations have proven useful for novel variants identification; thus, the present study aimed to explore the genetic heterogeneity of 15 consanguineous Pakistani families, each segregating a severe IRD phenotype using targeted next generation sequencing. Methods: This study enrolled 15 consanguineous families, each with multiple affected cases of retinal dystrophy phenotype. DNA was extracted from blood samples. Targeted panel sequencing of 344 known genes for IRDs was performed, followed by Sanger sequencing for segregation analysis. Results: Data analysis revealed a total of eight reported (c.316C&gt;T and c.506G&gt;A in RDH12; c.864dup and c.1012C&gt;T in SPATA7, as well as c.1459T&gt;C, c.1062_1068del, c.1495+1G&gt;A, c.998G&gt;A in the CRB1, LCA5, TULP1, and IFT140 genes, respectively) and four novel homozygous (c.720+1G&gt;T in LCA5, c.196G&gt;C in LRAT, c.620_625del in PRPH2, and c.3411_3414del in CRB1) variants segregating with disease phenotype in each respective family. Furthermore, a novel heterozygous variant of CRB1 gene, i.e., c.1935delC in compound heterozygous condition was found segregating with disease phenotype in one large family with multiple consanguinity loops. Conclusion: Comprehensive molecular diagnosis of 15 consanguineous Pakistani families led to the identification of a total of 5 novel variants contributing to genetic heterogeneity of LCA-associated genes and helped to provide genetic counseling to the affected families.<\/jats:p>","DOI":"10.3390\/genes15121646","type":"journal-article","created":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T04:33:29Z","timestamp":1734928409000},"page":"1646","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes"],"prefix":"10.3390","volume":"15","author":[{"given":"Zainab","family":"Akhtar","sequence":"first","affiliation":[{"name":"Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumaira","family":"Altaf","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi 46000, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, CA 92697, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sana","family":"Bibi","sequence":"additional","affiliation":[{"name":"Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamal","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3979-7606","authenticated-orcid":false,"given":"Kiran","family":"Afshan","sequence":"additional","affiliation":[{"name":"Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2742-3559","authenticated-orcid":false,"given":"Meng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, CA 92697, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5269-8971","authenticated-orcid":false,"given":"Hafiz Muhammad Jafar","family":"Hussain","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadeem","family":"Qureshi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi 46000, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4387-9735","authenticated-orcid":false,"given":"Rui","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, CA 92697, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4959-7832","authenticated-orcid":false,"given":"Sabika","family":"Firasat","sequence":"additional","affiliation":[{"name":"Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Huang, C.-H., Yang, C.-M., Yang, C.-H., Hou, Y.-C., and Chen, T.-C. 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