Congenital deafness and multiple lentigines. A report of cases in a mother and daughter

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

“…Nevertheless most cases of widespread lentiginosis are associated with a variety of physical non-cutaneous abnormalities affecting the cardiac, musculoskeletal, neurological, reproductive, gastrointestinal and auditory system [21,22,23,24,25,26,27,28,29,30,31,32,33,34,35]. LEOPARD syndrome and Carney complex (LAMB and NAME syndrome) are well-characterized disorders, both showing autosomal dominant hereditary patterns [21,36,37].…”

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

“…We reported that noncoding variants of human HGF cause nonsyndromic hearing loss DFNB39 in many human families (20), and a likely pathogenic variant in MET is associated with DFNB97-linked hearing loss (21). Moreover, deficits of SHP2 and SPRY2 result in hearing loss in humans and mice, respectively (22)(23)(24). Therefore, using real-time PCR and lymphoblastoid cell lines generated from the affected and nonpenetrant individuals of family PK-2, we studied the expression of 37 genes related to HGF signaling ( Figure 8) (25,26).…”

LEOPARD Syndrome with a New Association of Congenital Corneal Tumor, Choristoma

“…LEOPARD syndrome (lentigines, electrocardiographic abnormality, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness) (1) is a rare autosomal dominant disorder. Synonyms for this disorder include multiple lentigines syndrome, generalized lentiginosis, cardiocutaneous syndrome, lentiginosis profusa syndrome, and progressive cardiomyopathic lentiginosis (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11). There are several hypotheses regarding the pathogenesis of this syndrome (such as a mutation in the stem cell pool of the neuroectoderm) (2).…”