Rafiq Syndrome: Old Variant in MAN1B1 Gene and Some New Phenotypic Features.

IF 0.8 Q4 CLINICAL NEUROLOGY
Iranian Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2025-01-07 DOI:10.22037/ijcn.v19i1.42376
Nezir Özgün, Merve Saka Güvenç
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引用次数: 0

Abstract

Rafiq syndrome is a congenital disorder of glycosylation type II that develops due to mutations in the Mannosidase Alpha Class 1B Member 1 (MAN1B1) gene encoding α 1,2-mannosidase. In the literature, 45 patients have been reported to date. This study presents a patient with some phenotypic traits that differ from previously reported patients with Rafiq syndrome.Since the patient was not diagnosed despite detailed examinations, whole exome sequencing was performed. The patientss' homozygous c.1000 C>T (p.Arg334Cys) pathogenic variant was detected in the MAN1B1 gene (NM_016219.5), which was consistent with Rafiq syndrome. Our patient's clinical findings were mainly similar to those of previously reported patients. However, our patient had feeding difficulty that started to improve after the fifth month and persistent hyperekplexia . Feeding difficulty and hyperekplexia concomitant to MAN1B1 gene mutation are reported for the first time. More extensive case series are needed to understand whether these findings are part of the syndrome or incidental comorbid conditions.

Rafiq综合征:MAN1B1基因的旧变异和一些新的表型特征。
Rafiq综合征是一种先天性II型糖基化疾病,由于编码α 1,2-甘露糖苷酶的甘露糖苷酶α 1B成员1 (MAN1B1)基因突变而发展。在文献中,迄今为止已报道了45例患者。本研究提出了一个患者的一些表型特征,不同于以前报道的患者拉菲克综合征。由于患者在详细检查后仍未确诊,因此进行了全外显子组测序。患者纯合子c.1000在MAN1B1基因(NM_016219.5)中检测到C>T (p.a g334cys)致病变异,与Rafiq综合征一致。本例患者的临床表现与先前报道的患者基本相似。然而,我们的病人有进食困难,在第5个月后开始改善和持续的高臂丛。本文首次报道了MAN1B1基因突变引起的喂养困难和异常反应。需要更广泛的病例系列来了解这些发现是综合征的一部分还是偶然的合并症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.40
自引率
0.00%
发文量
35
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