Abstract：
Pathogenic variants in the Cadherin 3 (CDH3) gene are responsible for the occurrence of Hypotrichosis with Juvenile Macular Dystrophy (HJMD) and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEMS), both of which are rare autosomal recessive disorders characterized by hypotrichosis and progressive macular dystrophy. The CDH3 gene encodes for P-cadherin, a calcium-binding protein that is essential for cell-cell adhesion, which is expressed in the retinal pigment epithelial cells and hair follicles.
Fundus examination of both eyes was done in addition to clinical investigation. Genomic DNA was extracted from a whole-blood sample and whole-exome sequencing (WES) was performed to identify the underlying etiology.All identified variants were evaluated for their pathogenicity and causality.
We present the first case of HJMD in a 23-year-old female patient from Jordan. The patient presented to our ophthalmology clinic with poor vision in both eyes. Gross examination revealed sparse scalp hair along with macular dystrophy on fundus exam in both eyes. HJMD was suspected and whole-exome sequencing (WES) confirmed the diagnosis with the identification of a homozygous frameshift deletion (p.Gly277AlafsTer20) localised in exon 7 of the CDH3 gene.
Blindness due to progressive macular degeneration is a common manifestation in numerous syndromic recessive disorders such as HJMD. Ophthalmologists should consider the importance of systemic manifestations and genetic testing for the confirmation of diagnosis.
Fundus examination of both eyes was done in addition to clinical investigation. Genomic DNA was extracted from a whole-blood sample and whole-exome sequencing (WES) was performed to identify the underlying etiology.All identified variants were evaluated for their pathogenicity and causality.
We present the first case of HJMD in a 23-year-old female patient from Jordan. The patient presented to our ophthalmology clinic with poor vision in both eyes. Gross examination revealed sparse scalp hair along with macular dystrophy on fundus exam in both eyes. HJMD was suspected and whole-exome sequencing (WES) confirmed the diagnosis with the identification of a homozygous frameshift deletion (p.Gly277AlafsTer20) localised in exon 7 of the CDH3 gene.
Blindness due to progressive macular degeneration is a common manifestation in numerous syndromic recessive disorders such as HJMD. Ophthalmologists should consider the importance of systemic manifestations and genetic testing for the confirmation of diagnosis.
摘要：
Cadherin3（CDH3）基因的致病变异是导致幼年性黄斑营养不良（HJMD）和外胚层发育不良的发生，外指和黄斑营养不良综合征（EEMS），这两种疾病都是罕见的常染色体隐性遗传疾病，其特征是毛发减少和进行性黄斑营养不良。CDH3基因编码P-cadherin,一种钙结合蛋白，是细胞间粘附所必需的，在视网膜色素上皮细胞和毛囊中表达。
除了临床研究之外,还进行了双眼的眼底检查。从全血样品中提取基因组DNA并进行全外显子组测序(WES)以鉴定潜在的病因。评估所有鉴定的变体的致病性和因果关系。
我们介绍了第一例来自约旦的23岁女性患者的HJMD。患者出现在我们的眼科诊所，双眼视力不佳。在双眼眼底检查中，肉眼检查发现头皮毛发稀疏，并伴有黄斑营养不良。怀疑是HJMD，全外显子组测序（WES）通过鉴定纯合移码缺失证实了诊断（p。Gly277AlafsTer20）位于CDH3基因的外显子7中。
进行性黄斑变性导致的失明是许多综合征性隐性疾病如HJMD的常见表现。眼科医生应考虑全身表现和基因检测对确认诊断的重要性。
除了临床研究之外,还进行了双眼的眼底检查。从全血样品中提取基因组DNA并进行全外显子组测序(WES)以鉴定潜在的病因。评估所有鉴定的变体的致病性和因果关系。
我们介绍了第一例来自约旦的23岁女性患者的HJMD。患者出现在我们的眼科诊所，双眼视力不佳。在双眼眼底检查中，肉眼检查发现头皮毛发稀疏，并伴有黄斑营养不良。怀疑是HJMD，全外显子组测序（WES）通过鉴定纯合移码缺失证实了诊断（p。Gly277AlafsTer20）位于CDH3基因的外显子7中。
进行性黄斑变性导致的失明是许多综合征性隐性疾病如HJMD的常见表现。眼科医生应考虑全身表现和基因检测对确认诊断的重要性。
