关键词: N‐acetyl‐neuraminic acid congenital disorders of glycosylation skeletal dysplasia thrombocytopenia

来  源:   DOI:10.1002/ajmg.a.63721

Abstract:
N-acetyl-d-neuraminic acid synthase-congenital disorder of glycosylation (NANS-CDG) is a rare autosomal recessive defect in the N-acetyl-neuraminic acid biosynthesis pathway. Herein, we report the first Korean NANS-CDG patient. A 10-year-old boy was referred to our clinic because of incidental radiographic findings indicating spondyloepimetaphyseal dysplasia. The patient had microcephaly, cavum septum pellucidum, and ventriculomegaly at birth, and at 10 years, a very short stature. He had a history of idiopathic chronic immune thrombocytopenia, central adrenal insufficiency, and hypothyroidism since infancy. The first unprovoked seizure occurred at the age of 2 years, and he was subsequently admitted to the hospital frequently because of respiratory infections and intractable seizures. Exome sequencing identified unreported biallelic variants of the NANS gene. Clinical and genetic confirmation of NANS-CDG highlights its expanding phenotypic and genotypic diversity.
摘要:
N-乙酰-d-神经氨酸合酶-糖基化先天性疾病(NANS-CDG)是N-乙酰-神经氨酸生物合成途径中罕见的常染色体隐性遗传缺陷。在这里,我们报告首例韩国NANS-CDG患者。一个10岁的男孩被转诊到我们的诊所,因为偶然的影像学发现表明脊椎表骨干发育不良。病人有小头畸形,透明隔腔,出生时的脑室肿大,十年后,身材矮小.他有特发性慢性免疫性血小板减少症病史,中枢肾上腺功能不全,从婴儿期开始甲状腺功能减退.第一次无缘无故的癫痫发作发生在2岁时,他随后因呼吸道感染和顽固性癫痫发作而经常入院。外显子组测序鉴定了未报道的NANS基因的双等位基因变体。NANS-CDG的临床和遗传证实突出了其不断扩大的表型和基因型多样性。
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