Ontology highlight
ABSTRACT:
SUBMITTER: Ansar M
PROVIDER: S-EPMC4529463 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Ansar Muhammad M Santos-Cortez Regie Lyn P RL Saqib Muhammad Arif Nadeem MA Zulfiqar Fareeha F Lee Kwanghyuk K Ashraf Naeem Mahmood NM Ullah Ehsan E Wang Xin X Sajid Sundus S Khan Falak Sher FS Amin-ud-Din Muhammad M Smith Joshua D JD Shendure Jay J Bamshad Michael J MJ Nickerson Deborah A DA Hameed Abdul A Riazuddin Saima S Ahmed Zubair M ZM Ahmad Wasim W Leal Suzanne M SM
Human genetics 20150611 9
Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia, nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM. We performed homozygosity mapping and linkage analysis in a consanguineous Pakistani ACHM family and mapped the locus to a 15.12-Mb region on chromosome 1q23.1-q24.3 with a maximum LOD score of 3.6. A DNA sample from an affected family member underw ...[more]