OBJECTIVE: to contribute to the phenotype delineation and interpretation of a microdeletion not previously described in the literature on chromosome 20.
METHODS: A 4-month-old female patient was diagnosed with a heart murmur. An echocardiogram revealed pulmonary artery stenosis, which, combined with a prominent forehead observed on physical examination, determined her referral to clinical genetics. Because ALGS was suspected, complementary studies were performed, revealing butterfly vertebras and a genetic panel identified a pathogenic heterozygous deletion, encompassing the entire coding sequence of the JAG1 gene. To rule out a more extensive deletion, a chromosome microarray was performed, confirming a pathogenic microdeletion on chromosome 20 of 378 kb (arr[GRCh37] 20p12.2(10414643_10792802)x1).
CONCLUSIONS: A targeted sequencing panel followed by confirmation with a chromosome microarray allowed the identification and delineation of a pathogenic microdeletion not previously reported in the literature, including the complete JAG1 gene in a Chilean patient whose phenotype is consistent with ALGS.
目的:有助于对以前在20号染色体文献中没有描述的微缺失进行表型描述和解释。
方法:一名4个月大的女性患者被诊断为心脏杂音。超声心动图显示肺动脉狭窄,which,结合在体检中观察到的突出的前额,决定她转诊到临床遗传学。因为ALGS被怀疑,进行了补充研究,揭示蝴蝶椎骨和遗传小组鉴定出致病性杂合缺失,包含JAG1基因的整个编码序列。为了排除更广泛的删除,进行了染色体微阵列,确认378kb的20号染色体上的致病性微缺失(ARr[GRCh37]20p12.2(10414643_10792802)x1)。
结论:靶向测序小组,然后用染色体微阵列进行确认,可以鉴定和描绘以前文献中未报道的致病性微缺失,包括一名智利患者的完整JAG1基因,其表型与ALGS一致。