Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 were identified. We performed whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) for a patient with mild speech and motor developmental delay, short stature, recurrent pulmonary infections, tooth agenesis and triad of brain-lung-thyroid syndrome. By using CNV-seq, we identified a 3.1 Mb de novo interstitial deletion of the 14q13.2q21.1 region encompassing 17 OMIM genes including NKX2–1, PAX9 and NFKBIA. Our patient’s phenotype is consistent with other published 14q13 deletion patients. Our results showed the combination of WES and CNV-seq is an effective diagnostic strategy for patients with genetic or genomic disorders. After reviewing published patients, we also proposed a new critical region for 14q13 deletion syndrome with is a more benign disorder compared to 14q11-q22 deletion syndrome.

中文翻译：

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CNV-Seq 在患有脑-肺-甲状腺综合征、牙齿发育不全和免疫缺陷的患者中发现了一种新的 14q13.1-21.1 缺失

染色体 14q11-q22 缺失综合征 (OMIM 613457) 是一种罕见的基因组疾病。表型异质性取决于缺失大小、断点和缺失的基因。鉴定了 FOXG1、NKX2-1、PAX9 等关键基因。我们对一名患有轻度言语和运动发育迟缓、身材矮小、反复肺部感染、牙齿发育不全和脑-肺-甲状腺综合征三联征的患者进行了全外显子组测序 (WES) 和拷贝数变异测序 (CNV-seq)。通过使用 CNV-seq，我们确定了 14q13.2q21.1 区域的 3.1 Mb 从头间质缺失，其中包含 17 个 OMIM 基因，包括 NKX2-1、PAX9 和 NFKBIA。我们患者的表型与其他已发表的 14q13 缺失患者一致。我们的结果表明，WES 和 CNV-seq 的组合是遗传或基因组疾病患者的有效诊断策略。在回顾了已发表的患者后，我们还提出了 14q13 缺失综合征的新关键区域，与 14q11-q22 缺失综合征相比，它是一种更良性的疾病。