1.Split hand/foot malformation: report of a family with 20 cases.
Anli SHU ; Chua-nan YI ; Miao-miao LIU ; Cui-qin HUANG ; She CHEN ; Shu-mei YANG ; Qiang HE ; Xi-dan LI
Chinese Journal of Medical Genetics 2013;30(4):498-499
Adult
;
Female
;
Foot Deformities, Congenital
;
diagnosis
;
genetics
;
Hand Deformities, Congenital
;
diagnosis
;
genetics
;
Humans
;
Male
;
Pedigree
;
Young Adult
2.Analysis of TGFBI gene mutation in a pedigree affected with corneal dystrophy.
Anli SHU ; Gen LI ; Hai LUO ; Juan HE ; Xiaowen HU ; Jiayi SUN ; Ying QING ; Linghan GAO ; Juan ZHANG ; Chao YANG ; Lin HE ; Chunling WAN
Chinese Journal of Medical Genetics 2018;35(5):672-674
OBJECTIVETo detect potential mutation in a large Chinese pedigree affected with congenital corneal dystrophy.
METHODSTwo patients from the pedigree were subjected to whole exome sequencing to determine the candidate gene. Suspected mutation was verified in 13 additional members by directional Sanger sequencing. Ccorrelation between genotype and phenotype was explored.
RESULTSA missense mutation, c.1877A>C (p.His626Pro), was detected in exon 14 of the TGFBI gene in 8 patients from the pedigree, but not in five unaffected members and 100 unrelated healthy controls. Respectively, the mutation was predicted as "affecting protein function", "probably damaging" and "disease causing" by SIFT, PolyPhen-2 and MutationTaster.
CONCLUSIONThe c.1877A>C mutation of the TGFBI gene probably underlies the disease in this pedigree.
3.Analysis of chromosome regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q13.3 in a Chinese family with congenital preauricular fistula.
Jianwen SONG ; Yi WU ; Fayi NIE ; Biyuan WANG ; Yue LI ; Anli SHU ; Yanling MA ; Rui ZHANG ; John R KELSOE ; Jie MA
Chinese Journal of Medical Genetics 2015;32(4):472-475
OBJECTIVETo identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.
METHODSConventional linkage analysis using short tandem repeats (STR) markers was performed to investigate three chromosomal regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q31.3.
RESULTSNone of 16 STRs could attain a LOD score of more than -2.0 (theta=0). Therefore, the three regions were all excluded as the candidate region for the disease.
CONCLUSIONCPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.
Adult ; Asian Continental Ancestry Group ; genetics ; China ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Craniofacial Abnormalities ; genetics ; Female ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Pedigree
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