Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders
Open Access
- 27 September 2021
- Vol. 12 (10), 1518
- https://doi.org/10.3390/genes12101518
Abstract
Lebanon has a high annual incidence of birth defects at 63 per 1000 live births, most of which are due to genetic factors. The Catalogue for Transmission Genetics in Arabs (CTGA) database, currently holds data on 642 genetic diseases and 676 related genes, described in Lebanese subjects. A subset of disorders (14/642) has exclusively been described in the Lebanese population, while 24 have only been reported in CTGA and not on OMIM. An analysis of all disorders highlights a preponderance of congenital malformations, deformations and chromosomal abnormalities and demonstrates that 65% of reported disorders follow an autosomal recessive inheritance pattern. In addition, our analysis reveals that at least 58 known genetic disorders were first mapped in Lebanese families. CTGA also hosts 1316 variant records described in Lebanese subjects, 150 of which were not reported on ClinVar or dbSNP. Most variants involved substitutions, followed by deletions, duplications, as well as in-del and insertion variants. This review of genetic data from the CTGA database highlights the need for screening programs, and is, to the best of our knowledge, the most comprehensive report on the status of genetic disorders in Lebanon to date.This publication has 49 references indexed in Scilit:
- Homozygous familial hypercholesterolemia in Lebanon: A genotype/phenotype correlationMolecular Genetics and Metabolism, 2011
- Autozygome decodedGenetics in Medicine, 2010
- Genetic disorders in the Arab worldBMJ, 2006
- DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasisNature Genetics, 2006
- Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolismNature Genetics, 2006
- A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvementAmerican Journal of Medical Genetics Part A, 2006
- BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusNature Genetics, 2006
- Post‐natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: A new syndrome?American Journal of Medical Genetics Part A, 2003
- Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyJournal of Medical Genetics, 2002
- Genetic diseases in LebanonAmerican Journal of Medical Genetics, 1980