Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families

2007 ◽  
Vol 27 (6) ◽  
pp. 502-506 ◽  
Author(s):  
Li Hongyi ◽  
Wei Haiyun ◽  
Zheng Hui ◽  
Wenren Qing ◽  
Duan Honglei ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Type Ii ◽  
Novel Mutations ◽  
Chinese Families

scholarly journals Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism

2021 ◽  
Vol 12 ◽  
Author(s):  
Linya Ma ◽  
Jianjian Zhu ◽  
Jing Wang ◽  
Yazhou Huang ◽  
Jibo Zhang ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Oculocutaneous Albinism ◽  
Type Ii ◽  
Related Disorder ◽  
Chinese Families ◽  
Missense Variants ◽  
Clinical Presentations ◽  
Splicing Variants ◽  
Novel Variants ◽  
Generation Sequencing

BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene. The gene product plays a role in regulating the pH of melanosomes. Up to now, hundreds of OCA2 mutations have been reported and novel variants are still being discovered.MethodsIn this study, we reviewed the records of OCA2 patients who had conducted albinism genetic testing, and then analyzed the clinical and genetic information of 28 OCA2 patients who had been genetically diagnosed by using Sanger sequencing and next-generation sequencing.ResultsIn this study, we reported 31 variants screened from 28 Chinese OCA2 families, and characterized the detailed molecular and clinical presentations. There were 12 novel variants among all detected variants, including 3 missense variants (p.G393V, p.T482A, and p.R720P), 4 frameshift variants (p.R53Gfs∗49, p.N279Kfs∗17, p.I469Lfs∗4, p.I655Nfs∗12), 2 splicing variants (c.1637-2A > G, c.1951 + 1G > C), 2 stopgain variants (p.L278X, p.W652X) and 1 insertion variants (p.P315LinsT). One potential cluster of missense variants was implicated indicating the important roles of the underlying domains in OCA2 pathogenesis.ConclusionOur results were beneficial for diagnosis and precision clinical management for OCA2-related disorder, and this study expanded the mutation spectrum of oculocutaneous albinism.

Novel mutations of theP gene in type II oculocutaneous albinism (OCA2)

1997 ◽  
Vol 10 (2) ◽  
pp. 175-177 ◽  
Author(s):  
Richard A. Spritz ◽  
Seung-Taek Lee ◽  
Kazuyoshi Fukai ◽  
Karen Brondum-Nielsen ◽  
David Chitayat ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Type Ii ◽  
Novel Mutations

scholarly journals Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism

2020 ◽  
Author(s):  
Chenyang Xu ◽  
Yanbao Xiang ◽  
Huanzheng Li ◽  
Yunzhi Xu ◽  
Yijian Mao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Oculocutaneous Albinism ◽  
Chinese Families

Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II)

2015 ◽  
Vol 34 (4) ◽  
pp. 440-446 ◽  
Author(s):  
Hui Zheng ◽  
Chong Shao ◽  
Yan Zheng ◽  
Jin-Wei He ◽  
Wen-Zhen Fu ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Type Ii ◽  
Novel Mutations ◽  
Chinese Families ◽  
Autosomal Dominant Osteopetrosis

The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS

1985 ◽  
Vol 8 (S2) ◽  
pp. 145-146 ◽  
Author(s):  
R. A. Chalmers ◽  
B. M. Tracey ◽  
G. S. King ◽  
B. Pettit ◽  
F. Rocchiccioli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Glutaric Aciduria Type ◽  
Type Ii ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type Ii

Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations

2016 ◽  
Vol 81 (2) ◽  
pp. 140-142 ◽  
Author(s):  
Ken Okamura ◽  
Yuta Araki ◽  
Yuko Abe ◽  
Akari Shigyou ◽  
Toshiharu Fujiyama ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Novel Mutations ◽  
Genetic Analyses

Prenatal diagnosis of Pfeiffer syndrome type II

2004 ◽  
Vol 24 (8) ◽  
pp. 644-646 ◽  
Author(s):  
Bettina Blaumeiser ◽  
Philip Loquet ◽  
Wim Wuyts ◽  
Markus M. Nöthen
Keyword(s):  
Prenatal Diagnosis ◽  
Syndrome Type ◽  
Type Ii ◽  
Pfeiffer Syndrome

scholarly journals Prenatal Diagnosis of Oculocutaneous Albinism by Electron Microscopy of Fetal Skin

1983 ◽  
Vol 80 (3) ◽  
pp. 210-212 ◽  
Author(s):  
Robin A.J. Eady ◽  
David B. Gunner ◽  
Alec Garner ◽  
Charles H. Rodeck
Keyword(s):  
Electron Microscopy ◽  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Fetal Skin
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