Abstract |
KBG syndrome is characterized by postnatal short stature, macrodontia, facial and hand anomalies, delayed bone age and intellectual disability. KBG syndrome is an infrequently reported autosomal dominant condition caused by a mutation or haploinsufficiency of ANKRD11 at 16q24.3. We report on a patient, who showed many manifestations of KBG syndrome and was found to harbor a de novo ANKRD11 mutation, c.362T > A (p.Met121Lys). As the patient showed additional characteristics not occurring in KBG syndrome, a CGH array was performed which showed a de novo microdeletion of 9q31.2-q33.1. The majority of findings in our patient can be explained by the combined ANKRD11 mutation and 9q31.2-33.1 deletion. The case demonstrates well the need for comparing an abnormal genotype with a detailed phenotype analysis and the need for further studies in case the phenotype is unusual for the genotype.
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Authors | Mingzhi Xu, Huali Zhou, Jing Yong, Peikuan Cong, Chengjiang Li, Yunsong Yu, Ming Qi |
Journal | European journal of medical genetics
(Eur J Med Genet)
Vol. 56
Issue 5
Pg. 245-50
(May 2013)
ISSN: 1878-0849 [Electronic] Netherlands |
PMID | 23369839
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2013. Published by Elsevier Masson SAS. |
Chemical References |
- ANKRD11 protein, human
- Repressor Proteins
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Topics |
- Abnormalities, Multiple
(diagnosis, genetics)
- Asian People
(genetics)
- Bone Diseases, Developmental
(diagnosis, genetics)
- Chromosome Deletion
- Chromosomes, Human, Pair 9
(genetics)
- Facies
- Haploinsufficiency
- Humans
- Intellectual Disability
(diagnosis, genetics)
- Male
- Mutation, Missense
- Phenotype
- Repressor Proteins
(genetics)
- Tooth Abnormalities
(diagnosis, genetics)
- Young Adult
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