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A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

American Journal of Medical Genetics. Part A, 170A:1868–1873, 20 March 2016

Aggarwal S, Bhowmik AD, Ramprasad VL, Murugan S, Dalal A

We report on a sib pair of Indian origin presenting with intellectual disability, dysmorphism, and macrocephaly. Exome sequencing revealed a homozygous splice site HERC1 mutation in both probands. Functional analysis revealed use of an alternate splice site resulting in formation of a downstream stop codon and nonsense mediated decay. In the light of recent reports of HERC1 mutations in two families with a similar phenotypic presentation, this report reiterates the pathogenic nature and clinical consequences of HERC1 disruption.

  https://www.ncbi.nlm.nih.gov/pubmed/27108999

 

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