American journal of medical genetics. Part A
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Am. J. Med. Genet. A · Nov 2012
Case ReportsSleep-disordered breathing in Beckwith-Wiedemann syndrome: three patients.
Beckwith-Wiedemann syndrome is associated with craniofacial abnormalities that may predispose patients to sleep-related breathing disorders. There is limited literature on the polysomnography findings for children with this syndrome. Three patients with Beckwith-Wiedemann syndrome underwent polysomnography in our sleep lab and were found to have a variety of sleep-disordered breathing that ranged from obstructive apnea to isolated REM sleep-related hypoxemia-hypoventilation without obstructive apnea. Suspicion for sleep-disordered breathing should be high in children with Beckwith-Wiedemann syndrome.
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Am. J. Med. Genet. A · Nov 2012
Case ReportsAn inherited LMNA gene mutation in atypical Progeria syndrome.
Hutchinson-Gilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p. Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA). ⋯ The molecular studies showed the heterozygous mutation c.412G>A (p. Glu138Lys) of the LMNA gene. This mutation, previously reported as a de novo mutation, was inherited from the apparently healthy father who showed a somatic cell mosaicism.