The Past Prior to 1994, only three loci for nonsyndromic hearing impairment (NSHI) had
been identified. In the late 1980s, a sex-linked form of NSHI was mapped to Xql3-q21. 1 in …

Non‐syndromic deafness can be caused by mutations in both nuclear and mitochondrial
genes. More than 50 nuclear genes have been shown to be involved in non‐syndromic …

Hearing loss is the most common sensory defect in humans, affecting normal
communication in 10 percent of people aged 65 years or older. In most cases, hearing loss …

Fragile X syndrome arises from blocked expression of the fragile X mental retardation
protein (FMRP). Golgi-impregnated mature cerebral cortex from fragile X patients exhibits …

Fragile‐X syndrome is a common form of mental retardation resulting from the inability to
produce the fragile‐X mental retardation protein. Qualitative examination of human brain …

Male patients with fragile X syndrome lack FMR1 protein due to silencing of the FMR1 gene
by amplification of a CGG repeat and subsequent methylation of the promoter region. The …

Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders,
such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome …

Abstract Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital
malformation disorder, caused by mutations in the cohesin-loading protein NIPBL, for nearly …

Van Buchem disease is an autosomal recessive skeletal dysplasia characterised by
generalised bone overgrowth, predominantly in the skull and mandible. Clinical …

The vast majority of patients with fragile X syndrome show a folate–sensitive fragile site at
Xq27. 3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG) n repeat and …