Hypotrichosis with juvenile macular dystrophy

Almeida, Filipa Tavares; Carneiro-Freitas, Rui; Caldas, Regina; Vieira, Ana Paula

doi:10.4103/ijt.ijt_60_18

Cited by 4 publications

(1 citation statement)

References 11 publications

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“…Symptoms’ severity varies from patient to patient, but they all manifest with both retinal degeneration and short sparse scalp hair since birth [4]. The diagnosis of this disorder is based on both hair hypotrichosis and degenerative and pigmentary abnormalities of the fovea on fundoscopy [5]. This disorder usually affects the scalp hair, but it may affect the eyebrows and eyelashes [6, 7] with the preservation of other body hair [6].…”

Section: Discussionmentioning

confidence: 99%

Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report

Ahmed

Alali

Alsharif

et al. 2020

Skin Appendage Disord

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Hypotrichosis with juvenile macular dystrophy is an autosomal recessive disorder due to a mutation in the CDH3 gene. As its name indicates, the disease classically presented with hypotrichosis and early visual impairment. We describe herein a family member with alopecia since birth associated with severe visual impairment in their early life. We suspect the diagnosis of hypotrichosis with juvenile macular dystrophy. Genetic testing confirms the clinical suspension. We emphasize the importance of genetic testing for proper genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report

Ahmed

Alali

Alsharif

et al. 2020

Skin Appendage Disord

View full text Add to dashboard Cite

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Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing

Saeidian

Vahidnezhad

Youssefian

et al. 2019

Molec Gen & Gen Med

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BackgroundHypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by abnormal growth of scalp hair and juvenile macular degeneration leading to blindness. We have explored the genetic basis of HJMD in a large consanguineous family with 12 affected patients, 1–76 years of age, with characteristic phenotypes.MethodsWe first applied genome‐wide homozygosity mapping to 10 affected individuals for linkage analysis to identify the genomic region of the defective gene. All affected individuals shared a 7.2 Mb region of homozygosity on chromosome 16q21‐22.3, which harbored 298 genes, including CDH3, previously associated with HJMD. However, whole‐exome sequencing (WES) failed to identify the causative mutation in CDH3.ResultsFurther investigation revealed a missense variant in a gene closely linked to CDH3 (1.4 Mb distance: FHOD1: c.1306A>G, p.Arg436Gly). This variant was homozygous in all affected individuals and heterozygous in 18 out of 19 obligate carriers. While this variant was found by bioinformatics predictions to be likely pathogenic, a knock‐in mouse for this variant, made by the CRISPR/Cas, showed no disease phenotype. However, using whole‐genome sequencing (WGS), we were able to identify a novel Alu recombination‐mediated deletion in CDH3:c.del161‐811_246 + 1,044.ConclusionWGS was able to identify a deep intronic deletion mutation, not detected by WES.

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