Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3

Ariana Kariminejad, Shahriar Nafissi, Yalda Nilipoor, Alireza Tavasoli, Paul P. Van Veldhoven, Carine Bonnard, Yeng Ting Ng, Charles B. Majoie, Bruno Reversade, Raoul C. Hennekam

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

We report on a sister and two brothers born to healthy Iranian parents with mild intellectual disability, progressive muscle weakness, and characteristic facies. including highly arched eyebrows, down-slanting palpebral fissures, prominent nasal bridge, prominent nose, columella extending below alae nasi, narrow mouth, narrow palate, and dental caries, and in one of them an inability to abduct the left eye. Electrophysiological studies showed signs of myopathy, and muscle biopsies demonstrated only nonspecific signs. Brain MRIs in two of the sibs showed leukencephalopathy with delayed myelination, frontal and parietal hyperintensities, and hippocampal atrophy in one. We have been unable to find a description of this association of features in literature. Based on the occurrence in siblings, no significant difference in phenotype between the brothers and sister, absence of manifestations in parents, and a likely consanguinity between parents we performed a homozygosity mapping. A single identical-by-descent bloc encompassing 57 genes located at 3p24.3-p25.3 was found to segregate within the family with this phenotype.
Original languageEnglish (US)
Pages (from-to)2508-2515
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number11
DOIs
StatePublished - Nov 1 2015
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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