Missing Heritability in Albinism Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease /
Albinism is characterized by a variable degree of hypopigmentation affecting the skin and the hair, and causing ophthalmologic abnormalities. Its oculocutaneous, ocular and syndromic forms follow an autosomal or X-linked recessive mode of inheritance, and 22 disease-causing genes are implicated in t...
Elmentve itt :
| Szerzők: | |
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| Dokumentumtípus: | Cikk |
| Megjelent: |
2024
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| Sorozat: | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
25 No. 2 |
| Tárgyszavak: | |
| doi: | 10.3390/ijms25021271 |
| mtmt: | 34531433 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/30097 |
| LEADER | 02831nab a2200409 i 4500 | ||
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| 008 | 240412s2024 hu o 0|| eng d | ||
| 022 | |a 1661-6596 | ||
| 024 | 7 | |a 10.3390/ijms25021271 |2 doi | |
| 024 | 7 | |a 34531433 |2 mtmt | |
| 040 | |a SZTE Publicatio Repozitórium |b hun | ||
| 041 | |a eng | ||
| 100 | 1 | |a Nagy Nikoletta | |
| 245 | 1 | 0 | |a Missing Heritability in Albinism |h [elektronikus dokumentum] : |b Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease / |c Nagy Nikoletta |
| 260 | |c 2024 | ||
| 300 | |a 10 | ||
| 490 | 0 | |a INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |v 25 No. 2 | |
| 520 | 3 | |a Albinism is characterized by a variable degree of hypopigmentation affecting the skin and the hair, and causing ophthalmologic abnormalities. Its oculocutaneous, ocular and syndromic forms follow an autosomal or X-linked recessive mode of inheritance, and 22 disease-causing genes are implicated in their development. Our aim was to clarify the genetic background of a Hungarian albinism cohort. Using a 22-gene albinism panel, the genetic background of 11 of the 17 Hungarian patients was elucidated. In patients with unidentified genetic backgrounds (n = 6), whole exome sequencing was performed. Our investigations revealed a novel, previously unreported rare variant (N687S) of the two-pore channel two gene (TPCN2). The N687S variant of the encoded TPC2 protein is carried by a 15-year-old Hungarian male albinism patient and his clinically unaffected mother. Our segregational analysis and in vitro functional experiments suggest that the detected novel rare TPCN2 variant alone is not a disease-causing variant in albinism. Deep genetic analyses of the family revealed that the patient also carries a phenotype-modifying R305W variant of the OCA2 protein, and he is the only family member harboring this genotype. Our results raise the possibility that this digenic combination might contribute to the observed differences between the patient and the mother, and found the genetic background of the disease in his case. | |
| 650 | 4 | |a Klinikai orvostan | |
| 700 | 0 | 1 | |a Pál Margit |e aut |
| 700 | 0 | 1 | |a Kun József |e aut |
| 700 | 0 | 1 | |a Gálik Bence |e aut |
| 700 | 0 | 1 | |a Urban Peter |e aut |
| 700 | 0 | 1 | |a Medvecz Márta |e aut |
| 700 | 0 | 1 | |a Fabos Beata |e aut |
| 700 | 0 | 1 | |a Neller Alexandra |e aut |
| 700 | 0 | 1 | |a Abdolreza Aliasgari |e aut |
| 700 | 0 | 1 | |a Danis Judit |e aut |
| 700 | 0 | 1 | |a Szabó Viktória |e aut |
| 700 | 0 | 1 | |a Yang Zhuo |e aut |
| 700 | 0 | 1 | |a Fenske Stefanie |e aut |
| 700 | 0 | 1 | |a Biel Martin |e aut |
| 700 | 0 | 1 | |a Gyenesei Attila |e aut |
| 700 | 0 | 1 | |a Ádám Éva |e aut |
| 700 | 0 | 1 | |a Széll Márta |e aut |
| 856 | 4 | 0 | |u http://publicatio.bibl.u-szeged.hu/30097/1/NagyN.MissingHeritability_szc._2024IntJ.MolSci.pdf |z Dokumentum-elérés |