青少年开角型青光眼的基因遗传。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2023-06-01 DOI:10.1055/s-0040-1722213

Bindu I Somarajan, Shikha Gupta, Karthikeyan Mahalingam, Kishan Azmira, Viney Gupta

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引用次数: 2

摘要

青少年开角型青光眼(JOAG)是一种罕见的原发性青光眼，发病年龄在40岁之前。在这个病例报告中，我们描述了MYOC, p.p pro370leu和LTBP2, p.p pro432leu突变在JOAG家族中的共分离。常染色体显性JOAG家族来自印度北部。先证者及其父母的样本采用全外显子组测序进行评估。对所有研究参与者进行了桑格测序，以检查确定的突变。在受影响的个体中发现MYOC和LTBP2突变共分离，导致严重的JOAG表型，从而提示该家族存在MYOC与LTBP2的基因遗传。

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Digenic Inheritance in Juvenile Open-Angle Glaucoma.

Juvenile open-angle glaucoma (JOAG) is an uncommon subset of primary glaucoma with an onset before the age of 40 years. In this case report, we describe the cosegregation of MYOC , p.Pro370Leu and LTBP2 , p.Pro432Leu mutations in a family with JOAG. The family with autosomal dominant JOAG belonged to Northern India. The samples of proband and her parents were evaluated by whole exome sequencing. Sanger sequencing was conducted in all the study participants to check the mutations identified. Both MYOC and LTBP2 mutations were found to cosegregate in affected individuals leading to a severe JOAG phenotype, thereby suggesting a digenic inheritance of MYOC with LTBP2 in this family.

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.