Mutational spectrum in a Chinese cohort with congenital cataracts
Abstract Background To identify the mutational spectrum in a Chinese cohort with congenital cataracts. Methods Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel‐based next‐generation sequencing, t...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-09-01
|
| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2196 |
| _version_ | 1797688221616832512 |
|---|---|
| author | Hong‐Li Liu Dao‐Wei Zhang Fang‐Yuan Hu Ping Xu Sheng‐Hai Zhang Ji‐Hong Wu |
| author_facet | Hong‐Li Liu Dao‐Wei Zhang Fang‐Yuan Hu Ping Xu Sheng‐Hai Zhang Ji‐Hong Wu |
| author_sort | Hong‐Li Liu |
| collection | DOAJ |
| description | Abstract Background To identify the mutational spectrum in a Chinese cohort with congenital cataracts. Methods Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel‐based next‐generation sequencing, then classified into a cohort for further mutational analysis. Results After recruitment (n = 442; 228 males and 214 females), 49.32% (218/442) of subjects received a clinical diagnosis of congenital cataracts, and 56.88% (124/218) of patients received a molecular diagnosis. Eighty‐four distinct variants distributed among 43 different genes, including 42 previously reported variants and 42 novel variants, were detected, and 49 gene variants were causally associated with patient phenotypes; 27.37% of variants (23/84) were commonly detected in PAX6, GJA8 and CRYGD, and the three genes covered 33.06% of cases (41/124) with molecular diagnosis. The majority of genes were classified as genes involved in nonsyndromic congenital cataracts (19/43, 44.19%) and were responsible for 56.45% of cases (70/124). The majority of functional and nucleotide changes were missense variants (53/84, 63.10%) and substitution variants (74/84, 88.10%), respectively. Nine de novo variants were identified. Conclusion This study provides a reference for individualized genetic counseling and further extends the mutational spectrum of congenital cataracts. |
| first_indexed | 2024-03-12T01:28:12Z |
| format | Article |
| id | doaj.art-465d4dc710b34375a5754e9d506cce7c |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-12T01:28:12Z |
| publishDate | 2023-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-465d4dc710b34375a5754e9d506cce7c2023-09-12T09:57:07ZengWileyMolecular Genetics & Genomic Medicine2324-92692023-09-01119n/an/a10.1002/mgg3.2196Mutational spectrum in a Chinese cohort with congenital cataractsHong‐Li Liu0Dao‐Wei Zhang1Fang‐Yuan Hu2Ping Xu3Sheng‐Hai Zhang4Ji‐Hong Wu5Eye Institute, Eye and ENT Hospital, College of Medicine Fudan University Shanghai ChinaEye Institute, Eye and ENT Hospital, College of Medicine Fudan University Shanghai ChinaEye Institute, Eye and ENT Hospital, College of Medicine Fudan University Shanghai ChinaEye Institute, Eye and ENT Hospital, College of Medicine Fudan University Shanghai ChinaEye Institute, Eye and ENT Hospital, College of Medicine Fudan University Shanghai ChinaEye Institute, Eye and ENT Hospital, College of Medicine Fudan University Shanghai ChinaAbstract Background To identify the mutational spectrum in a Chinese cohort with congenital cataracts. Methods Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel‐based next‐generation sequencing, then classified into a cohort for further mutational analysis. Results After recruitment (n = 442; 228 males and 214 females), 49.32% (218/442) of subjects received a clinical diagnosis of congenital cataracts, and 56.88% (124/218) of patients received a molecular diagnosis. Eighty‐four distinct variants distributed among 43 different genes, including 42 previously reported variants and 42 novel variants, were detected, and 49 gene variants were causally associated with patient phenotypes; 27.37% of variants (23/84) were commonly detected in PAX6, GJA8 and CRYGD, and the three genes covered 33.06% of cases (41/124) with molecular diagnosis. The majority of genes were classified as genes involved in nonsyndromic congenital cataracts (19/43, 44.19%) and were responsible for 56.45% of cases (70/124). The majority of functional and nucleotide changes were missense variants (53/84, 63.10%) and substitution variants (74/84, 88.10%), respectively. Nine de novo variants were identified. Conclusion This study provides a reference for individualized genetic counseling and further extends the mutational spectrum of congenital cataracts.https://doi.org/10.1002/mgg3.2196cataractcongenital cataractgene variantgenetic testhereditary pediatric cataract |
| spellingShingle | Hong‐Li Liu Dao‐Wei Zhang Fang‐Yuan Hu Ping Xu Sheng‐Hai Zhang Ji‐Hong Wu Mutational spectrum in a Chinese cohort with congenital cataracts Molecular Genetics & Genomic Medicine cataract congenital cataract gene variant genetic test hereditary pediatric cataract |
| title | Mutational spectrum in a Chinese cohort with congenital cataracts |
| title_full | Mutational spectrum in a Chinese cohort with congenital cataracts |
| title_fullStr | Mutational spectrum in a Chinese cohort with congenital cataracts |
| title_full_unstemmed | Mutational spectrum in a Chinese cohort with congenital cataracts |
| title_short | Mutational spectrum in a Chinese cohort with congenital cataracts |
| title_sort | mutational spectrum in a chinese cohort with congenital cataracts |
| topic | cataract congenital cataract gene variant genetic test hereditary pediatric cataract |
| url | https://doi.org/10.1002/mgg3.2196 |
| work_keys_str_mv | AT hongliliu mutationalspectruminachinesecohortwithcongenitalcataracts AT daoweizhang mutationalspectruminachinesecohortwithcongenitalcataracts AT fangyuanhu mutationalspectruminachinesecohortwithcongenitalcataracts AT pingxu mutationalspectruminachinesecohortwithcongenitalcataracts AT shenghaizhang mutationalspectruminachinesecohortwithcongenitalcataracts AT jihongwu mutationalspectruminachinesecohortwithcongenitalcataracts |