Some cases of chromosome 7p22.3 deletions have been reported, but the genotype-phenotype correlation is still uncertain. Neurodevelopmental delay and heart anomalies have been recorded as the most recurrent defects. We describe the clinical features of a four-year-old male child with a 139 kb deletion at 7p22.3 involving SNX8 gene, inherited from a mosaic mother. The same deletion is also present in the fetus on the ongoing third pregnancy of the couple with normal fetal ultrasound assessment.

The proband was prenatally diagnosed with left kidney agenesis. He does not show any congenital heart disease, but mild intellectual disability, learning and language delay, and severe behavioral problems related to the hyperactive-impulsive and inattentive area. These clinical features are also evident in other 7p22 deletions cases involving the SNX8 gene, supporting the role of this gene in neurodevelopment. Conversely, the revision of all published cases with small 7p22 deletions and the absence of heart malformations in the present family confirm that this region is involved in heart development, anyway did not confirm the role of SNX8 in cardiac phenotypes, either due to the reduced penetrance or the involvement of other candidate genes.

已经报道了染色体7p22.3缺失的一些情况，但是基因型-表型的相关性仍然不确定。神经发育迟缓和心脏异常已被记录为最常见的缺陷。我们描述了一个四岁大的男孩的临床特征，其在涉及SNX8基因的7p22.3处有一个139 kb的缺失，该基因是从镶嵌母亲那里遗传的。在进行正常胎儿超声评估的夫妇正在进行的第三次妊娠中，胎儿中也存在相同的缺失。

先证者在产前被诊断出患有左肾发育不全。他没有表现出任何先天性心脏病，但有轻度的智力障碍，学习和语言延迟，以及与冲动过度和注意力不集中区域有关的严重行为问题。这些临床特征在涉及SNX8基因的其他7p22缺失病例中也很明显，这支持了该基因在神经发育中的作用。相反，当前家族中所有7p22小缺失的已发表病例的修订和不存在心脏畸形均证实该区域参与了心脏发育，无论如何也未证实SNX8在心脏表型中的作用，这归因于外显率的降低或其他候选基因的参与。