TL;DR
It is demonstrated that MC1R deficiency alone can result in an "albinism-like" red hair phenotype in East Asian populations, and including MC1R in the differential diagnosis for Asian patients with unexplained red hair and mild hypopigmentation is supported.
Background: The melanocortin-1 receptor (MC1R) gene is a major determinant of skin and hair color. Although several MC1R variants increase the risk of skin tumors regardless of pigmentation, their role as genetic modifiers in ocular diseases remains poorly understood. Methods: Here, we analyzed a cohort of 48 Caucasian...
The clinical and molecular spectrum of CHH in the Mexican population is expanded and additional evidence for RMRP variant interpretation is provided, providing additional evidence for RMRP variant interpretation.
Abstract Background Congenital hypogonadotropic hypogonadism (CHH) is a genetically heterogeneous disorder characterized by absent or delayed puberty and infertility due to gonadotropin-releasing hormone deficiency. While loss-of-function variants in FGFR1 are the most commonly known genetic cause of CHH, diagnostic sc...
To report three families with congenital aniridia harboring different types of PAX6 variants, analyze their genetic characteristics and genotype–phenotype correlations, and explore the value of a multi-technique combined detection strategy in the molecular diagnosis of aniridia. Systematic ophthalmic e...
This study addresses the genetic diagnosis and reproductive intervention for families affected by KIT-related pigmentary disorders, which can manifest as either piebaldism due to loss-of-function variants or hyperpigmentation due to gain-of-function variants. We recruited three Chinese families presenting with these di...
Hereditary cerebral cavernous malformations (CCMs) are characterized by lesion multiplicity and the formation of de novo lesions, in contrast to sporadic forms. We performed sequencing analyses covering the known autosomal dominant loci CCM1/KRIT1, CCM2/CCM2 (Malcavernin), and CCM3/PDCD10 in 11 patients from eight fami...
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