Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3
| Autor: | Carine Bonnard, Shahriar Nafissi, Charles B. L. M. Majoie, Paul P. Van Veldhoven, Bruno Reversade, Yeng Ting Ng, Raoul C.M. Hennekam, Ariana Kariminejad, Ali Reza Tavasoli, Yalda Nilipoor |
|---|---|
| Přispěvatelé: | ACS - Amsterdam Cardiovascular Sciences, ANS - Amsterdam Neuroscience, Radiology and Nuclear Medicine, Center for Reproductive Medicine, APH - Amsterdam Public Health, Human Genetics |
| Rok vydání: | 2015 |
| Předmět: |
Male
Adolescent Genes Recessive Consanguinity Intellectual Disability Intellectual disability Genetics medicine Humans Myopathy Child Genetics (clinical) Genetic Association Studies Muscle Weakness business.industry Siblings Homozygote Infant Newborn Muscle weakness Chromosome Mapping Facies Infant Anatomy Syndrome medicine.disease Narrow palate Hyperintensity Pedigree Palpebral fissure Child Preschool Female Chromosomes Human Pair 3 medicine.symptom business Prominent nose |
| Zdroj: | American journal of medical genetics. Part A, 167AA(11), 2508-2515. Wiley-Liss Inc. |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | 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. © 2015 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text