Abstract：
UNASSIGNED: Fanconi\'s syndrome (FS) is characterized by type-2 renal tubular acidosis, short stature, and renal rickets, along with glycosuria, aminoaciduria, hypophosphaturia, and urinary bicarbonate wasting. The genetic form of FS has been linked to HNF4A variants. Although additional clinical features such as hearing impairment have recently been associated with HNF4A-linked FS, its ocular manifestation has not been described.
UNASSIGNED: Presenting a case of a 5-year-old male child with bilateral progressive corneal opacification and the presence of bilateral greyish-white deposits in the interpalpebral region since infancy. A next-generation sequencing (NGS)-based genetic testing was performed for the child followed by parental genetic testing for the identified variant. Furthermore, relevant works of literature were reviewed related to this condition.
UNASSIGNED: Detailed corneal findings showed a bilateral band-shaped keratopathy (BSK) in the patient. Physical and systemic findings showed signs consistent with FS. Sequencing analysis revealed a novel heterozygous c.635C>T, (p.Pro212Leu) variant in the HNF4A gene in the proband and mother, while the father had a normal genotype.
UNASSIGNED: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.
UNASSIGNED: Presenting a case of a 5-year-old male child with bilateral progressive corneal opacification and the presence of bilateral greyish-white deposits in the interpalpebral region since infancy. A next-generation sequencing (NGS)-based genetic testing was performed for the child followed by parental genetic testing for the identified variant. Furthermore, relevant works of literature were reviewed related to this condition.
UNASSIGNED: Detailed corneal findings showed a bilateral band-shaped keratopathy (BSK) in the patient. Physical and systemic findings showed signs consistent with FS. Sequencing analysis revealed a novel heterozygous c.635C>T, (p.Pro212Leu) variant in the HNF4A gene in the proband and mother, while the father had a normal genotype.
UNASSIGNED: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.
摘要：
■范可尼综合征（FS）的特征是2型肾小管酸中毒，身材矮小,和肾病，随着糖尿，氨基酸尿症,低磷酸盐尿,和尿碳酸氢盐消瘦。FS的遗传形式与HNF4A变体有关。尽管最近听力损伤等其他临床特征与HNF4A相关FS相关，尚未描述其眼部表现。
■介绍一例5岁男童双侧进行性角膜混浊，且自婴儿期起在睑间区域存在双侧灰白色沉积物。对孩子进行基于下一代测序（NGS）的基因检测，然后对鉴定的变异进行父母基因检测。此外，对与这一状况有关的相关文献进行了综述。
■详细的角膜发现显示患者双侧带状角膜病变（BSK）。身体和全身检查结果显示与FS一致的体征。测序分析揭示了一种新的杂合c.635C>T，(p.Pro212Leu）在先证者和母亲中HNF4A基因中的变体，而父亲的基因型正常。
■我们的案例强调了BSK在与HNF4A基因变异相关的遗传性FS的异常罕见表现中的发生。该变体存在于先证者和无症状母亲中。因此,在这种情况下，已知存在于HNF4A中的可变外显率是公认的。此报告建议第一个记录的实例在BSK和HNF4A关联的FS之间建立合理的连接，特征在于归因于HNF4A基因的可变外显率。
■介绍一例5岁男童双侧进行性角膜混浊，且自婴儿期起在睑间区域存在双侧灰白色沉积物。对孩子进行基于下一代测序（NGS）的基因检测，然后对鉴定的变异进行父母基因检测。此外，对与这一状况有关的相关文献进行了综述。
■详细的角膜发现显示患者双侧带状角膜病变（BSK）。身体和全身检查结果显示与FS一致的体征。测序分析揭示了一种新的杂合c.635C>T，(p.Pro212Leu）在先证者和母亲中HNF4A基因中的变体，而父亲的基因型正常。
■我们的案例强调了BSK在与HNF4A基因变异相关的遗传性FS的异常罕见表现中的发生。该变体存在于先证者和无症状母亲中。因此,在这种情况下，已知存在于HNF4A中的可变外显率是公认的。此报告建议第一个记录的实例在BSK和HNF4A关联的FS之间建立合理的连接，特征在于归因于HNF4A基因的可变外显率。
