Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, No. 218 Jixi Road, Hefei, 230022 Anhui, China.
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), No. 81 Meishan Road, Hefei, 230032 Anhui, China.
Biomed Res Int. 2020 Nov 26;2020:4215632. doi: 10.1155/2020/4215632. eCollection 2020.
Split-hand/foot malformation (SHFM) is a severe congenital disability mainly characterized by the absence or hypoplasia of the central ray of the hand/foot. To date, several candidate genes associated with SHFM have been identified, including , , , , and . Herein, we report a novel variant of heterozygously present in affected members of a family with SHFM.
This study investigated a Chinese family, in which the proband and his son suffered from SHFM. The peripheral blood sample of the proband was used to perform whole-exome sequencing (WES) to explore the possible genetic causes of this disease. Postsequencing bioinformatic analyses and Sanger sequencing were conducted to verify the identified variants and parental origins on all family members in the pedigree.
By postsequencing bioinformatic analyses and Sanger sequencing, we identified a novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of in this family that results in a substitution of methionine with isoleucine, which is probably associated with the occurrence of SHFM.
A novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of in SHFM was thus identified, which may enlarge the spectrum of known variants and also provide new approaches for genetic counselling of families with SHFM.
分裂手/足畸形（SHFM）是一种严重的先天性残疾，主要表现为手/足的中央射线缺失或发育不良。迄今为止，已经确定了几个与 SHFM 相关的候选基因，包括,,,, 。在此，我们报道了一个家族中存在的 杂合变异体，该家族成员患有 SHFM。
本研究调查了一个中国家庭，先证者及其儿子患有 SHFM。先证者的外周血样本用于进行全外显子组测序（WES），以探讨该疾病的可能遗传原因。对所有家系成员进行测序后生物信息学分析和 Sanger 测序，以验证鉴定的变异体和亲本来源。
通过测序后生物信息学分析和 Sanger 测序，我们在该家族中发现了一个新的错义变异体（NM_003722.4:c.948G>A；p.Met316Ile），该变异体导致蛋氨酸被异亮氨酸取代，可能与 SHFM 的发生有关。
在 SHFM 中鉴定出了一个新的错义变异体（NM_003722.4:c.948G>A；p.Met316Ile），这可能扩大了已知 的变异体谱，并为 SHFM 患者的遗传咨询提供了新的途径。
