Prenatal Genotyping of Four Common Oculocutaneous Albinism Genes in 51 Chinese Families

Wei, Aihua; Zang, Dongjie; Zhang, Zhao; Yang, Xiumin; Li, Wei

doi:10.1016/j.jgg.2015.05.001

Cited by 20 publications

(13 citation statements)

References 21 publications

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“…The quality control of samples and data analysis workflow of NGS data was described before (Wei et al., ). The pathogenicity of previously unreported alleles (PUAs) was evaluated by mutational type, allelic frequency, evolutionary conservation, and family transmission pattern by following the ACMG guidelines (Richards et al., ; Wei et al., , ). All the candidate variants were verified by Sanger sequencing, and large deletions or duplications were verified by fluorescence quantitative PCR or multiplex ligation‐dependent probe amplification (MLPA) in patients, family members, and 120 unaffected controls.…”

Section: Genotypes and Clinical Features Of The Chinese Patients Withmentioning

confidence: 99%

NGS‐based 100‐gene panel of hypopigmentation identifies mutations in Chinese Hermansky–Pudlak syndrome patients

Wei

Yuan

Bai

et al. 2016

Pigment Cell Melanoma Res

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Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by hypopigmentation, bleeding diathesis, and other symptoms due to multiple defects in lysosome-related organelles. Ten HPS subtypes have been identified with mutations in HPS1 to HPS10. Only four patients with HPS-1 have been reported in Chinese population. Using next-generation sequencing (NGS), we have screened 100 hypopigmentation genes and identified four HPS-1, two HPS-3, one HPS-5, and three HPS-6 in Chinese HPS patients with typical ocular or oculocutaneous albinism and the absence of platelet dense granules together with other variable phenotypes. All these patients except one homozygote were compound heterozygotes. Among these mutations, 14 were previously unreported alleles (four in HPS1, three in HPS3, two in HPS5, five in HPS6). Our results demonstrate the feasibility and utility of NGS-based panel diagnostics for HPS. Genotyping of HPS subtypes is a prerequisite for intervention of subtype-specific symptoms.

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Section: Genotypes and Clinical Features Of The Chinese Patients Withmentioning

confidence: 99%

NGS‐based 100‐gene panel of hypopigmentation identifies mutations in Chinese Hermansky–Pudlak syndrome patients

Wei

Yuan

Bai

et al. 2016

Pigment Cell Melanoma Res

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“…Further research of albinism associated genes can help to develop molecular tools used for prenatal diagnosis of albinism. By far, prenatal screening of albinism by molecular analysis has been performed in Israeli families (Rosenmann et al, ), Taiwanese families (Hsieh et al, ), and Chinese families (Liu, Kong, Shi, Wu, & Jiang, ; Wei et al, ).…”

Section: Introductionmentioning

confidence: 99%

“…Type 5 has been mapped to the human chromosome 4q24, which is a novel locus for nonsyndromic OCA (Kamaraj et al, 2014;Visser, Kayser, Grosveld, & Palstra, 2014), and type 6 and type 7 are respectively caused by mutations in SLC24A5 and C10orf11 (Wei et al, 2013). In Chinese Han population, comprehensive molecular analysis has revealed the spectral distribution of Chinese OCA: the three commonest types are OCA type 1, OCA type 2, and OCA type 4 with the prevalence of 64.3%, 11.7%, and 15.6%, respectively (Wei, Zang, Zhang, Yang, & Li, 2015).…”

Section: Introductionmentioning

confidence: 99%

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

Yan¹,

Chen

Yang

et al. 2019

Molec Gen & Gen Med

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Background Oculocutaneous albinism (OCA) is a group of heterogeneous autosomal recessive genetic disorder of melanin synthesis results in hypopigmented hair, skin, and eyes. OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in TYR , OCA2, and SLC45A2 have high morbidity rates in Asia. Methods TYR , OCA2, and SLC45A2 mutation analysis was carried out on 18 nonconsanguineous OCA patients and four fetuses were included for prenatal diagnose. Three genes of all individuals were amplified by polymerase chain reaction and examined by Sanger sequencing. The pathogenicity of the detected mutations were analyzed by Mutation Taster, PolyPhen 2, and SIFT software, and the conservation of the substituted amino acids were analyzed by MEGA software. Results Eleven TYR mutations, three OCA2 mutations, and two SLC45A2 mutations were identified in 14 OCA type 1 patients, two OCA type 2 patients, and two OCA type 4 patients. c.1021A>G, p.R341G in TYR , c.1096_1104del, p.V366*, and c.1079C>T, p.S360F in OCA2 were novel. One of the four fetuses carried compound heterozygous mutation of TYR and became spontaneous abortion, the other three carried no mutations and appeared normal at birth. Conclusion In this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling.

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“…The parents of the patients, with a heterozygous p.R299H mutation in the TYR gene, presented a typical phenotype with no symptoms of OCA. Notably, homozygous and heterozygous p.R299H mutations in the TYR gene have been frequently identified in Chinese, Caucasian, Korean and Arabian patients with OCA1, indicating that this location is a mutation hotspot in OCA1 (7,(17)(18)(19)(20).…”

Section: Discussionmentioning

confidence: 99%

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1

Lü

Yuan

et al. 2017

Molecular Medicine Reports

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Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls. Exome sequencing was conducted in the proband, followed by verification in other family members, using Sanger sequencing. Patients in the family presented with typical OCA1 features, including hypopigmentation of the skin and hair, and distinctive ocular changes. A homozygous missense variant, c.896G>A (p.R299H), in the TYR gene was identified in two patients, which co‑segregated with disease in the family. This variant was not present in the 100 healthy controls. These results expand the number of mutations identified to be responsible for OCA1 in the Chinese Han population, and may have implications for genetic counseling and clinical management of the disease.

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Prenatal Genotyping of Four Common Oculocutaneous Albinism Genes in 51 Chinese Families

Cited by 20 publications

References 21 publications

NGS‐based 100‐gene panel of hypopigmentation identifies mutations in Chinese Hermansky–Pudlak syndrome patients

NGS‐based 100‐gene panel of hypopigmentation identifies mutations in Chinese Hermansky–Pudlak syndrome patients

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1

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