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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation.

Piranit N Kantaputra¹, Oranart Matangkasombut, Warissara Sripathomsawat

¹Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand. dentaland17@gmail.com

American Journal of Medical Genetics. Part A

|November 9, 2011

Summary

This summary is machine-generated.

This study identifies a TP63 gene mutation in a mother and son with split hand-split foot and ectodermal dysplasia. The mutation is linked to dental anomalies like amelogenesis imperfecta and supernumerary teeth.

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Area of Science:

Genetics
Developmental Biology
Dermatology

Background:

Split hand-split foot malformation, ectodermal dysplasia, and skin/nail dystrophies are rare congenital conditions.
TP63 gene mutations are known causes of ectrodermal dysplasia syndromes, affecting ectodermal-derived tissues.
The genetic basis for the co-occurrence of these specific phenotypes remains incompletely understood.

Observation:

A familial case involving a mother and son presenting with split hand-split foot, ectodermal dysplasia, skin hyperpigmentation, and dystrophic nails.
Hair abnormalities included wiry texture, slow growth, and microscopic evidence of hypoplastic bulbs and cuticle defects.
The son exhibited various forms of amelogenesis imperfecta, a supernumerary premolar, and fused mandibular incisors.

Findings:

Genetic analysis revealed a novel c.588-2A>C mutation in the TP63 gene in both affected individuals.
This mutation is predicted to alter mRNA splicing, leading to the insertion of an extra amino acid (p.Thr195_Tyr196insPro).
This is the first report linking a TP63 mutation to the combined presentation of amelogenesis imperfecta, tooth fusion, and supernumerary premolars.

Implications:

Expands the phenotypic spectrum associated with TP63 mutations.
Highlights the crucial role of TP63 in the development of ectodermal appendages and craniofacial structures.
Provides a genetic basis for understanding complex syndromic presentations involving ectodermal defects and dental anomalies.