Supplementary Material for: <b><i>MAN1B1</i></b> Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects

Intellectual disability (ID) is one of the most common reasons for referral to genetic counseling. Nevertheless, in over 50% of the cases no diagnosis can be made. Here, we present how exome sequencing in combination with medical genetics evaluation led to the identification of a known pathogenic homozygous mutation in <i>MAN1B1 </i>in a consanguineous Turkish family. The phenotype comprised mild ID, truncal obesity and facial dysmorphism, comparable to that of the patients in the 3 recent publications on mutations in this gene. Clinically, the majority of patients in the literature showed congenital disorder of glycosylation syndrome type 2. In this study, we summarize the current knowledge about <i>MAN1B1</i> mutations from the literature as well as databases and suggest that exome sequencing should be implemented in a larger scale in routine diagnostics, since autosomal recessive ID has proven to be extremely heterogeneous. Even syndromic patterns may only become recognizable retrospectively.

智力障碍（Intellectual Disability, ID）是转诊至遗传咨询的最常见原因之一。然而，超过50%的病例无法明确诊断。本研究展示了结合医学遗传学评估的外显子组测序，如何在一个近亲婚配的土耳其家系中，成功鉴定出<i>MAN1B1</i>基因上一处已知的致病性纯合突变。该患者的表型包括轻度智力障碍、躯干肥胖及面部形态异常，与近期3篇关于该基因突变相关病例报道中的患者表型一致。临床方面，现有文献中多数患者表现为先天性糖基化障碍综合征2型。本研究总结了从文献及数据库中获取的关于<i>MAN1B1</i>基因突变的现有研究进展，并提出：鉴于常染色体隐性遗传智力障碍已被证实具有极高的遗传异质性，应在常规诊断中大规模推广外显子组测序技术。即便某些综合征表型，也仅能通过回顾性分析得以识别。

搜集汇总

背景与挑战

背景概述

该数据集是《MAN1B1突变导致可识别表型：病例报告与未来展望》研究的补充材料，包含一个PDF文件和一个DOCX文件，提供原始数据支持。研究聚焦于一个土耳其近亲家庭，通过外显子测序识别出MAN1B1基因的致病性纯合突变，表型包括轻度智力障碍、躯干肥胖和面部畸形，与文献中报告的先天性糖基化障碍综合征2型一致。数据集旨在总结MAN1B1突变的现有知识，并推动外显子测序在常规诊断中的应用，以应对常染色体隐性智力障碍的高度异质性。