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Published on: October 20, 2019
Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree
May El Hachem1, Andrea Diociaiuti1, Vittoria Proto2
1Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio, 4; 00165, Rome, Italy.
Background:
Kindler syndrome (KS) is a rare autosomal recessive disease of skin fragility, photosensitivity and progressive poikiloderma. Mucous membranes may also be involved. KS is caused by mutations in the FERMT1 gene encoding kindlin-1.
Objectives:
We report the clinical and molecular features of the largest kindred with KS to date, comprising 18 affected family members (age range: 12-63 years) from the Gaza Strip.
Materials And Methods:
All the affected family members were clinically examined. In addition a skin biopsy for immunofluorescence testing was obtained from the index case. Molecular analysis of the FERMT1 gene was performed on genomic DNA extracted from peripheral blood of 5 patients.
Results:
All patients presented skin and eye photosensitivity, cutaneous atrophy, dyschromia and poikiloderma, oral cavity involvement, dysphagia and constipation with anal fissures. In addition, nail dystrophy and digit webbing were observed in most of them. Ocular manifestations detected in all patients comprised ectropion and keratoconjunctivitis, with early development of symblepharon in 17 out of 18 cases and blindness in one. Of note, 17 out of 18 affected family members also suffered from urethral strictures since childhood. Diagnosis was supported by immunofluorescence findings and definitely confirmed by FERMT1 sequencing which identified the homozygous frame-shift mutation c.137_140delTAGT.
Conclusions:
The high rate of mucosal involvement, its early onset and progressive course are noticeable features of our kindred. Also noteworthy is the lack of muco-cutaneous malignancies, despite the sunny habitat.
Insights
This study details Kindler syndrome (KS) in a large Gaza Strip family, identifying a FERMT1 gene mutation. The findings highlight significant mucosal involvement and ocular issues in affected individuals.
Area of Science:
- Genetics and Molecular Biology
- Dermatology
- Ophthalmology
Background:
- Kindler syndrome (KS) is a rare, autosomal recessive genodermatosis characterized by skin fragility, photosensitivity, and poikiloderma.
- Mutations in the FERMT1 gene, encoding kindlin-1, are the established cause of KS.
- Mucous membrane involvement can occur in Kindler syndrome.
Observation:
- The study examined the largest kindred with KS to date, including 18 affected individuals from the Gaza Strip.
- Clinical manifestations included skin and eye photosensitivity, poikiloderma, oral cavity involvement, dysphagia, constipation, nail dystrophy, and digit webbing.
- Ocular findings were universal, featuring ectropion and keratoconjunctivitis, with frequent symblepharon and one case of blindness.
Findings:
- All 18 affected family members exhibited significant mucosal and ocular involvement.
- A homozygous frame-shift mutation, c.137_140delTAGT, in the FERMT1 gene was identified in all patients.
- Notably, 17 out of 18 individuals presented with urethral strictures since childhood.
Implications:
- This research underscores the high prevalence and early onset of mucosal and ocular complications in this Kindler syndrome kindred.
- The study highlights the genetic basis of Kindler syndrome, specifically a novel FERMT1 mutation.
- The absence of mucocutaneous malignancies despite a sunny environment warrants further investigation into potential protective factors or disease modifiers.
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