Abstract
Haploinsufficiency of ANKRD11 encoding ankyrin repeat domain-containing protein 11 was recently reported as the cause of a syndrome due to microdeletion, characterized by intellectual disability with minor facial anomalies and short stature. Most recently, intragenic mutations of ANKRD11 were found in a cohort of patients with KBG syndrome. KBG is an autosomal dominant intellectual disability syndrome characterized by short stature, characteristic facial appearance, macrodontia, and skeletal anomalies. It remains unknown if deletion of the entire ANKRD11 causes KBG syndrome. We present a mother and child with a heterozygous 365Kb deletion at 16q24.3 containing ANKRD11, ZNF778, and SPG7 genes. The child presented with developmental delay, facial anomalies, hand anomalies, and a congenital heart defect. The mother has short stature, facial anomalies, macrodontia, hand anomalies, and learning disability. Both individuals had many findings reported in KBG syndrome and the family met the suggested diagnostic criteria. However, typical macrodontia with fused incisors, costovertebral anomalies, and delayed bone age were not present. We conclude that microdeletions involving ANKRD11 result in a phenotype similar to that of KBG syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 547-552 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 158 A |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 1 2012 |
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Keywords
- ANKRD11
- Array CGH
- KBG syndrome
- Macrodontia
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. / Sacharow, Stephanie; Li, Deling; Fan, Yao-Shan; Tekin, Mustafa.
In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 3, 01.03.2012, p. 547-552.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome
AU - Sacharow, Stephanie
AU - Li, Deling
AU - Fan, Yao-Shan
AU - Tekin, Mustafa
PY - 2012/3/1
Y1 - 2012/3/1
N2 - Haploinsufficiency of ANKRD11 encoding ankyrin repeat domain-containing protein 11 was recently reported as the cause of a syndrome due to microdeletion, characterized by intellectual disability with minor facial anomalies and short stature. Most recently, intragenic mutations of ANKRD11 were found in a cohort of patients with KBG syndrome. KBG is an autosomal dominant intellectual disability syndrome characterized by short stature, characteristic facial appearance, macrodontia, and skeletal anomalies. It remains unknown if deletion of the entire ANKRD11 causes KBG syndrome. We present a mother and child with a heterozygous 365Kb deletion at 16q24.3 containing ANKRD11, ZNF778, and SPG7 genes. The child presented with developmental delay, facial anomalies, hand anomalies, and a congenital heart defect. The mother has short stature, facial anomalies, macrodontia, hand anomalies, and learning disability. Both individuals had many findings reported in KBG syndrome and the family met the suggested diagnostic criteria. However, typical macrodontia with fused incisors, costovertebral anomalies, and delayed bone age were not present. We conclude that microdeletions involving ANKRD11 result in a phenotype similar to that of KBG syndrome.
AB - Haploinsufficiency of ANKRD11 encoding ankyrin repeat domain-containing protein 11 was recently reported as the cause of a syndrome due to microdeletion, characterized by intellectual disability with minor facial anomalies and short stature. Most recently, intragenic mutations of ANKRD11 were found in a cohort of patients with KBG syndrome. KBG is an autosomal dominant intellectual disability syndrome characterized by short stature, characteristic facial appearance, macrodontia, and skeletal anomalies. It remains unknown if deletion of the entire ANKRD11 causes KBG syndrome. We present a mother and child with a heterozygous 365Kb deletion at 16q24.3 containing ANKRD11, ZNF778, and SPG7 genes. The child presented with developmental delay, facial anomalies, hand anomalies, and a congenital heart defect. The mother has short stature, facial anomalies, macrodontia, hand anomalies, and learning disability. Both individuals had many findings reported in KBG syndrome and the family met the suggested diagnostic criteria. However, typical macrodontia with fused incisors, costovertebral anomalies, and delayed bone age were not present. We conclude that microdeletions involving ANKRD11 result in a phenotype similar to that of KBG syndrome.
KW - ANKRD11
KW - Array CGH
KW - KBG syndrome
KW - Macrodontia
UR - http://www.scopus.com/inward/record.url?scp=84862792024&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84862792024&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.34436
DO - 10.1002/ajmg.a.34436
M3 - Article
C2 - 22307766
AN - SCOPUS:84862792024
VL - 158 A
SP - 547
EP - 552
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SN - 1552-4825
IS - 3
ER -