Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.
Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.
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DOI：
10.3892/mmr.2018.8838
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发表时间：
2018-06
影响因子：
3.4
通讯作者：
Lin G
中科院分区：
文献类型：
--
作者：
Yang X;Lin X;Zhu Y;Luo J;Lin G
In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split-hand/split-foot malformation (SHFM) 4 family. The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revealed to be associated with SHFM. Sanger sequencing confirmed the sequences of the proband and his father. The father was diagnosed with SHFM and harbored a CGG-to-CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding site and dimerization site of TP63. The R243Q mutation was predicted to be pathogenic by PolyPhen-2. The proband, who was diagnosed with four digit SHFM, exhibited a more severe phenotype. X-ray analysis returned the following results: Absence of third phalange bilaterally and third metacarpus of the left hand; absence of the second toes bilaterally and partial third toes; and partial fusion of the second, third and metatarsal bones of the right side with deformity of the second metatarsal of the right side. Osteochondroma was present in the fourth proximal radial metacarpal of the left hand and the basal and proximal parts of the second metatarsal of the right side. The proband's father had five digits in both feet. These results indicate that the R243Q mutation produces a novel phenotype named SHFM4. The present study revealed that the R243Q mutation in the TP63 gene produced a novel phenotype named SHFM4, thereby demonstrating the mutational overlap between ectrodactyly-ectodermal dysplasia-cleft syndrome and SHFM4.
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影响因子：
9.5
作者：
Thorvaldsdóttir H;Robinson JT;Mesirov JP
通讯作者：
Mesirov JP
影响因子：
5.2
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Armour, Christine M.;Bulman, Dennis E.;Graham, Gail E.
通讯作者：
Graham, Gail E.
影响因子：
14.9
作者：
Mangiulli M;Valletti A;Caratozzolo MF;Tullo A;Sbisà E;Pesole G;D'Erchia AM
通讯作者：
D'Erchia AM
影响因子：
46.9
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影响因子：
9.8
作者：
van Bokhoven, H;Hamel, BCJ;Brunner, HG
通讯作者：
Brunner, HG