The Oculo-Dento-Digital Dysplasia Syndrome*

The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia

“…Cx43 is expressed in the follicular and interfollicular epidermis; however, the various roles that Cx43 may have in regulating these compartments have not been characterized. Given that the expression of mutant Cx43 in some patients leads to structural hair fiber abnormalities (Thoden et al, 1977;Adamski et al, 1994;Kelly et al, 2006) and slow-growing, thin, dry, and dull hair (Gorlin et al, 1963;Sugar et al, 1966;Kjaer et al, 2004;Paznekas et al, 2009), we postulated that Cx43 may have a key role in hair development and growth. In this study, we found that Cx43 in mutant mice have a distinct Cx43 localization profile within the hair follicle, display hair fiber structural abnormalities, and grow slower.…”

“…In addition to these common developmental defects, poor hair growth or hair abnormalities is observed in B25% of these patients (Paznekas et al, 2009). These same patients are also often reported to have hair that is dry, dull, thin, curly, and sparse (Gorlin et al, 1963;Sugar et al, 1966;Thoden et al, 1977;Kjaer et al, 2004;Kelly et al, 2006;Paznekas et al, 2009). Hair fiber abnormalities were reported as early as 1977 in an ODDD patient who developed monilethrix and pili annuli changes in their hair fibers (Thoden et al, 1977).…”

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

“…Subsequently, several articles reviewing this condition have been published, summarizing the clinical findings in over 70 cases. The physical characteristics include ophthalmic findings (microphthalmia, microcornea, fine porous spongy iris abnormalities, glaucoma, and optic atrophy), craniofacial anomalies (epicanthal folds, short palpebral fissures, hyper-or hypotelorism, thin nose with hypoplastic alae nasi, small anteverted nares, prominent columnella, conductive hearing loss, cleft palate, mandibular overgrowth with wide alveolar ridge, cranial hyperostosis, and microcephaly), dental anomalies (enamel hypoplasia, caries, microdontia, and partial anodontia), hair changes (hypotrichosis, fine, dry, and slow-growing hair), hand and foot malformations (syndactyly of fourth and fifth fingers and/or third and fourth toes, camptodactyly of fifth fingers, and midphalangeal hypoplasia or aplasia of one or more digits or toes), and other skeletal abnormalities (broad tubular bones) (Sugar et al, 1966;Reisner et al, 1969;Thoden et al, 1977;Judisch et al, 1979;Patton and Laurence, 1985).…”

Displasia oculodentodigital: consejo genético, opciones reproductivas y estudio molecular de un caso clínico referido para diagnóstico preimplantacional

“…La displasia oculodentodigital, de herencia autosó mica dominante, penetrancia completa y expresividad variable interfamiliar e intrafamiliar, se caracteriza principalmente por manifestar microftalmia, microcó rnea, puente nasal prominente, hipoplasia alar nasal, microdontia, hipoplasia del esmalte dental, pé rdida dentaria temprana, sindactilia bilateral del cuarto y quinto dedos de la mano y sindactilia del tercer y cuarto dedos del pie 6 . Mutaciones en el gen GJA1 son responsables de la displasia oculodentodigital.…”