Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5
Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation. Case Presentation: In this paper, we report two siblings who were admitted to our clinic with various symptoms. The older one, a 13-year old boy, pre...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2020-06-01
|
| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=82410 |
| _version_ | 1797816673137328128 |
|---|---|
| author | Muhsin Elmas Umit Can Yildirim Dilek Cavusoglu Evrim Gurhan Tahta Ebru Elmas Tolga Altug Sen Aysegul Bukulmez |
| author_facet | Muhsin Elmas Umit Can Yildirim Dilek Cavusoglu Evrim Gurhan Tahta Ebru Elmas Tolga Altug Sen Aysegul Bukulmez |
| author_sort | Muhsin Elmas |
| collection | DOAJ |
| description | Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation.
Case Presentation: In this paper, we report two siblings who were admitted to our clinic with various symptoms. The older one, a 13-year old boy, presented with mental retardation, lack of speech, autistic behavior, and selfmutilation. And the younger one, a 6-month old girl, presented with growth retardation, dysmorphic face, and strabismus. We used next generation sequencing for our definitive diagnoses and followed a path from genotype to phenotype.
Conclusion: We found homozygous changes in DGUOK (NM_080916.2 c.566T>G) and HPS5 (NM_181507.1 c.219G>A) genes in the siblings. In the literature review, we did not find any article that investigates two different autosomal recessive disorders in two siblings. On this aspect, we present a different approach. [JBCGenetics 2020; 3(1.000): 41-44] |
| first_indexed | 2024-03-13T08:41:10Z |
| format | Article |
| id | doaj.art-848aab8cbb474102be3fa239fd02249c |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:10Z |
| publishDate | 2020-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-848aab8cbb474102be3fa239fd02249c2023-05-30T11:46:08ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2020-06-0131414410.24911/JBCGenetics/183-157926346382410Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5Muhsin Elmas0Umit Can Yildirim1Dilek Cavusoglu2Evrim Gurhan Tahta3Ebru Elmas4Tolga Altug Sen5Aysegul Bukulmez6Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey Pediatrics Department, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, TurkeyBackground: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation. Case Presentation: In this paper, we report two siblings who were admitted to our clinic with various symptoms. The older one, a 13-year old boy, presented with mental retardation, lack of speech, autistic behavior, and selfmutilation. And the younger one, a 6-month old girl, presented with growth retardation, dysmorphic face, and strabismus. We used next generation sequencing for our definitive diagnoses and followed a path from genotype to phenotype. Conclusion: We found homozygous changes in DGUOK (NM_080916.2 c.566T>G) and HPS5 (NM_181507.1 c.219G>A) genes in the siblings. In the literature review, we did not find any article that investigates two different autosomal recessive disorders in two siblings. On this aspect, we present a different approach. [JBCGenetics 2020; 3(1.000): 41-44]http://www.ejmanager.com/fulltextpdf.php?mno=82410intellectual disabilitygenetic heterogeneitydna mutational analysis |
| spellingShingle | Muhsin Elmas Umit Can Yildirim Dilek Cavusoglu Evrim Gurhan Tahta Ebru Elmas Tolga Altug Sen Aysegul Bukulmez Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5 Journal of Biochemical and Clinical Genetics intellectual disability genetic heterogeneity dna mutational analysis |
| title | Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5 |
| title_full | Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5 |
| title_fullStr | Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5 |
| title_full_unstemmed | Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5 |
| title_short | Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5 |
| title_sort | two different homozygous mutations in two turkish siblings dguok and hps5 |
| topic | intellectual disability genetic heterogeneity dna mutational analysis |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=82410 |
| work_keys_str_mv | AT muhsinelmas twodifferenthomozygousmutationsintwoturkishsiblingsdguokandhps5 AT umitcanyildirim twodifferenthomozygousmutationsintwoturkishsiblingsdguokandhps5 AT dilekcavusoglu twodifferenthomozygousmutationsintwoturkishsiblingsdguokandhps5 AT evrimgurhantahta twodifferenthomozygousmutationsintwoturkishsiblingsdguokandhps5 AT ebruelmas twodifferenthomozygousmutationsintwoturkishsiblingsdguokandhps5 AT tolgaaltugsen twodifferenthomozygousmutationsintwoturkishsiblingsdguokandhps5 AT aysegulbukulmez twodifferenthomozygousmutationsintwoturkishsiblingsdguokandhps5 |