Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 4, Pages 1021-1028Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36377
Keywords
21q22; 11 deletion; developmental delay; fluorescence in situ hybridization (FISH); copy number analysis; ITSN1
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Funding
- Ministry of Health, Labour and Welfare of Japan
- fund for Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems
- Strategic Research Program for Brain Sciences
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Japan Society for the Promotion of Science
- Takeda Science Foundation
- Yokohama Foundation for Advancement of Medical Science
- Hayashi Memorial Foundation for Female Natural Scientists
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Monosomy 21 is a very rare chromosomal abnormality. At least 45 patients with partial deletion involving 21q11 have been reported. Here, we report a Japanese boy who presented with pre- and postnatal growth delays, psychomotor developmental delay, microcephaly, and iris coloboma. Cytogenetic analysis revealed a de novo 1.4-Mb deletion at 21q22.11 containing 19 protein-coding RefSeq genes. We compared the clinical phenotypes between the present patient and 16 previously reported patients with a deleted region associated with postnatal growth delay and psychomotor developmental delay. Interestingly, ITSN1 was the only gene deleted or disrupted in all cases; this gene is known to be associated with intellectual disability. Microcephaly and brain structural abnormalities including polymicrogyria and agenesis/hypoplasia of the corpus callosum may also result from haploinsufficiency of ITSN1, highlighting its clinical significance for the neurological features of patients with monosomy 21. (c) 2014 Wiley Periodicals, Inc.
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