Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
| العنوان: | Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report |
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| المؤلفون: | Jing Wang, Jingjing Xu, Yang Wan, Yun Yang, Liangwei Mao, Shuyang Gao, Hai-rong Wang, Hao Li |
| المصدر: | BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019) BMC Medical Genetics |
| بيانات النشر: | Springer Science and Business Media LLC, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Male, Models, Molecular, 0301 basic medicine, Proband, genetic structures, Protein Conformation, Usher syndrome, Case Report, Gross deletion, 030105 genetics & heredity, medicine.disease_cause, Compound heterozygosity, Sequence Analysis, Protein, Genetics (clinical), Sequence Deletion, Genetics, OCA2, Sanger sequencing, Mutation, Targeted NGS, High-Throughput Nucleotide Sequencing, Exons, Oculocutaneous albinism, Albinism, Oculocutaneous, Myosin VIIa, symbols, Heterozygote, lcsh:Internal medicine, lcsh:QH426-470, Genetic Counseling, Myosins, Biology, 03 medical and health sciences, symbols.namesake, Non-syndromic, Asian People, medicine, Humans, Genetic Predisposition to Disease, lcsh:RC31-1245, Genetic heterogeneity, Infant, Membrane Transport Proteins, medicine.disease, lcsh:Genetics, 030104 developmental biology |
| الوصف: | Background Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (OCA). Case presentation Here, we report an 11-month-old male proband from a Chinese Han non-consanguineous family, who presented with milky skin, yellow white hair, nystagmus, astigmatism, and hypermetropia. We performed the targeted next-generation sequencing (NGS) on the proband and identified two novel compound heterozygous variants (c.1865 T > C (p.Leu622Pro) and exons 17–21 deletion) in OCA2 gene associated with OCA type 2 (OCA2, OMIM 203200). Meanwhile, a previously reported heterozygous mutation (c.4805G > A) in MYO7 gene related with Usher syndrome type 1B was found. The online tools SIFT, PolyPhen-2, and Mutation Taster predicted variant c.1865 T > C was probably damaging. The residue p.Leu622 was in a highly conserved region among species by CLUSTALW. Three-dimensional homology model with I-TASSER indicated that p.Leu622Pro variant disturbed the formation of the α-helix, resulting in a random coil structure. The gross deletion (exons 17–21) in OCA2 gene has was not been reported previously. These two novel variants in OCA2 gene were inherited from each parent respectively, after verification by Sanger sequencing and quantitative PCR (qPCR) in the family. Conclusions This study indicates the two novel compound heterozygous mutations in OCA2 gene may be responsible for clinical manifestations of OCA2. It expands the mutation spectrum of OCA2 gene and is helpful to screen for large deletions with targeted NGS protocol in monogenic disease. It also assists the genetic counselling, carrier screening and personalized healthcare of the disease. Electronic supplementary material The online version of this article (10.1186/s12881-019-0850-7) contains supplementary material, which is available to authorized users. |
| تدمد: | 1471-2350 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84fe164208ee50597cb0e1a56c7f7ef1 https://doi.org/10.1186/s12881-019-0850-7 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....84fe164208ee50597cb0e1a56c7f7ef1 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 14712350 |
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