Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.
Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.
复制标题
DOI：
10.1186/s12920-023-01493-z
复制
发表时间：
2023-04-03
影响因子：
2.7
通讯作者：
中科院分区：
文献类型：
--
作者：
Xp22.31的缺失和重复已在各种研究中描述，但不同的实验室对致病性的解释不同。 我们的研究旨在完善胎儿Xp22.31拷贝数变异之间的基因型-表型关联，旨在为遗传咨询提供数据支持。我们回顾性分析了87例胎儿及其家庭成员的染色体核型和单核苷酸多态性阵列结果。通过随访获得表型数据。携带Xp22.31缺失的胎儿（9名女性，12名男性）的百分比为24.1%（n = 21），而重复（38名女性，28名男性）占75.9%（n = 66）。在这里，我们注意到，典型区域（从6.4到8.1 Mb，hg 19）被检测到的比例最高，无论是在胎儿缺失（76.2%，16/21）或重复（69.7%，46/66）。在女性缺失携带者中，两个胎儿选择终止妊娠，其余七个出生时没有明显的表型异常。在男性缺失携带者中，选择终止妊娠的4个胎儿，其余8个显示鱼鳞病无神经发育异常。在其中两例中，染色体不平衡是从外祖父那里遗传的，他们也只有鱼鳞病表型。在66例重复携带者中，2例在随访时失访，8例终止妊娠。在其余56个胎儿中没有其他临床发现，包括两个Xp22.31四体，无论是男性还是女性携带者。我们的观察为Xp22.31拷贝数变异的男性和女性携带者的遗传咨询提供了支持。男性缺失型携带者中，除皮肤发现外，大多数无症状。我们的研究是一致的，认为Xp22.31重复可能是一个良性的变异，在两性。在线版本包含补充材料，可通过10.1186/s12920-023-01493-z获得。
Xp22.31 deletion and duplication have been described in various studies, but different laboratories interpret pathogenicity differently. Our study aimed to refine the genotype–phenotype associations between Xp22.31 copy number variants in fetuses, with the aim of providing data support to genetic counseling. We retrospectively analyzed karyotyping and single nucleotide polymorphism array results from 87 fetuses and their family members. Phenotypic data were obtained through follow-up visits. The percentage of fetuses carrying the Xp22.31 deletions (9 females, 12 males) was 24.1% (n = 21), while duplications (38 females, 28 males) accounted for 75.9% (n = 66). Here, we noted that the typical region (from 6.4 to 8.1 Mb, hg19) was detected in the highest ratio, either in the fetuses with deletions (76.2%, 16 of 21) or duplications (69.7%, 46 of 66). In female deletion carriers, termination of pregnancy was chosen for two fetuses, and the remaining seven were born without distinct phenotypic abnormalities. In male deletion carriers, termination of pregnancy was chosen for four fetuses, and the remaining eight of them displayed ichthyosis without neurodevelopmental anomalies. In two of these cases, the chromosomal imbalance was inherited from the maternal grandfathers, who also only had ichthyosis phenotypes. Among the 66 duplication carriers, two cases were lost at follow-up, and pregnancy was terminated for eight cases. There were no other clinical findings in the rest of the 56 fetuses, including two with Xp22.31 tetrasomy, for either male or female carriers. Our observations provide support for genetic counseling in male and female carriers of Xp22.31 copy number variants. Most of them are asymptomatic in male deletion carriers, except for skin findings. Our study is consistent with the view that the Xp22.31 duplication may be a benign variant in both sexes. The online version contains supplementary material available at 10.1186/s12920-023-01493-z.
登录
查看更多内容
影响因子：
3.7
作者：
Hu H;Zhang R;Ma Y;Luo Y;Pan Y;Xu J;Jiang L;Wang D
通讯作者：
Wang D
影响因子：
3
作者：
Craig, Wendy Y.;Roberson, Marie;Haddow, James E.
通讯作者：
Haddow, James E.
影响因子：
--
作者：
Brinciotti, Mario;Fioriello, Francesca;Matricardi, Maria
通讯作者：
Matricardi, Maria
DOI：
10.1212/nxg.0000000000000056
发表时间：
2016-04
期刊：
Neurology. Genetics
影响因子：
--
作者：
Addis L;Rosch RE;Valentin A;Makoff A;Robinson R;Everett KV;Nashef L;Pal DK
通讯作者：
Pal DK
影响因子：
4
作者：
Addis L;Sproviero W;Thomas SV;Caraballo RH;Newhouse SJ;Gomez K;Hughes E;Kinali M;McCormick D;Hannan S;Cossu S;Taylor J;Akman CI;Wolf SM;Mandelbaum DE;Gupta R;van der Spek RA;Pruna D;Pal DK
通讯作者：
Pal DK