Piebaldism resulting from a novel deletion mutation of KIT gene in a five‐generation Chinese family

2021 ◽  
Author(s):  
Y. J. Chen ◽  
P. Diao ◽  
R. Y. Wan ◽  
L. Li
Keyword(s):  
Deletion Mutation ◽  
Chinese Family ◽  
Kit Gene

scholarly journals Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Dewei Li ◽  
Le Tian ◽  
Xiaochuan Wang ◽  
Min Chen
Keyword(s):  
Missense Mutation ◽  
Penetrating Keratoplasty ◽  
Vision Loss ◽  
Corneal Dystrophy ◽  
Postoperative Recurrence ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Colloidal Iron ◽  
Macular Corneal Dystrophy

Abstract Background Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missense mutation and a rare exon deletion mutation in the CHST6 gene in a Chinese family with MCD. Methods Genomic DNA was extracted from the peripheral blood, and next generation sequencing was used to analyse the gene sequence. The pathogenic mutations were identified in all affected family members. The proband successively received binocular penetrating keratoplasty (PKP), and the corneas were examined by histopathology and colloidal iron staining to prove the diagnosis. A long-term follow-up was made to observe the changes after PKP. Results Genetic analysis demonstrated hemizygous mutations in the proband, including a novel c.520A>C (p.K174Q) missense mutation and a rarely reported exon 3 deletion mutation, which were co-segregated with the MCD phenotypes in the pedigree. The positive colloidal iron staining confirmed the diagnosis of MCD in the proband. However, the clinical phenotype and pathological manifestation of both eyes were different from each other because of complicated keratitis in the left eye. During the nine years of follow-up, visual acuity was improved significantly, and the cornea was transparent without rejection and postoperative recurrence in both eyes. Conclusions The novel hemizygous mutations were thought to contribute to the loss of CHST6 function, which induced typical clinical and pathological features of MCD. PKP was an effective treatment for MCD.

A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family

2010 ◽  
Vol 42 (6) ◽  
pp. 922-926 ◽  
Author(s):  
Pengfei Lin ◽  
Fei Mao ◽  
Qiji Liu ◽  
Wanling Yang ◽  
Changshun Shao ◽  
...  
Keyword(s):  
Han Chinese ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease

2008 ◽  
Vol 121 (2) ◽  
pp. 175-177
Author(s):  
Li-ping ZHANG ◽  
Jun-lan LÜ ◽  
Xiao-hui WANG ◽  
Li-ping ZOU
Keyword(s):  
Menkes Disease ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Atp7a Gene

A Novel Deletion Mutation in CCM1 Gene (krit1) is Detected in a Chinese Family with Cerebral Cavernous Malformations

2006 ◽  
Vol 33 (2) ◽  
pp. 105-110 ◽  
Author(s):  
Bao-Hu JI ◽  
Wei QIN ◽  
Tao SUN ◽  
Guo-Yin FENG ◽  
Lin HE ◽  
...  
Keyword(s):  
Deletion Mutation ◽  
Chinese Family ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations

A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

2004 ◽  
Vol 114 (2) ◽  
pp. 192-197 ◽  
Author(s):  
Yanhua Qi ◽  
Hongyan Jia ◽  
Shangzhi Huang ◽  
Hui Lin ◽  
Jingzhi Gu ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Nuclear Cataract

A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia

2011 ◽  
Vol 10 (4) ◽  
pp. 3539-3544 ◽  
Author(s):  
C.Y. Fang ◽  
J.J Xue ◽  
L. Tan ◽  
C.H. Jiang ◽  
Q.P. Gao ◽  
...  
Keyword(s):  
Deletion Mutation ◽  
Chinese Family ◽  
Cleidocranial Dysplasia ◽  
Single Base ◽  
Single Base Deletion

scholarly journals A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma

2014 ◽  
Vol 94 (3) ◽  
pp. 339-340 ◽  
Author(s):  
M Li ◽  
X Dai ◽  
R Cheng ◽  
L Yang ◽  
Z Yao ◽  
...  
Keyword(s):  
Deletion Mutation ◽  
Chinese Family ◽  
Palmoplantar Keratoderma
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