TLDR A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
The document discussed a case of hypotrichosis and juvenile macular dystrophy (HJMD) in a 13-year-old Turkish girl, linked to a novel homozygous mutation (c.447_467del (p.149_156del)) in the CDH3 gene. The patient experienced gradual bilateral visual deterioration and significant hair loss, with normal eyebrows, eyelashes, teeth, nails, and limbs. Fundus examination revealed bilateral ring-shaped atrophy of the retinal pigment epithelium. The study highlighted the autosomal-recessive inheritance pattern, as both healthy parents and an older brother were heterozygous for the mutation. This case underscored the importance of genetic testing, genetic counseling, and early eye consultations for children with sparse hair, contributing to the understanding of the mutation spectrum in HJMD and the genotype-phenotype correlations in CDH3-related conditions.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
15 citations,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
13 citations,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
30 citations,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
19 citations,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
52 citations,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
15 citations,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
30 citations,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
