Unknown

Dataset Information

0

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities.

ABSTRACT: BACKGROUND:Mowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2 gene located on chromosome 2q22.3. At present, over 190 cases with mutations and deletions involving the ZEB2 gene have been reported, but triplication or duplication of reciprocal region of Mowat-Wilson syndrome has never been reported. CASE PRESENTATION:Here we report a 2-year-2-month-old boy carrying a de novo 2.9 Mb complex copy number gain at 2q22.3 involving triplication of ZEB2 gene. The boy is characterized by intrauterine growth retardation, hypotonia, cognitive impairment, multiple congenital anomalies and behavioral abnormalities. CONCLUSION:This case provides evidence that triplication of ZEB2 gene may be clinical significance and ZEB2 gene is likely to be a dosage sensitive gene.

SUBMITTER: Yuan H 

PROVIDER: S-EPMC4690300 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities.

Yuan Haiming H   Zhang Lina L   Chen Mengfan M   Zhu Junping J   Meng Zhe Z   Liang Liyang L  

Molecular cytogenetics 20151223

<h4>Background</h4>Mowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2 gene located on chromosome 2q22.3. At present, over 190 cases with mutations and deletions involving the ZEB2 gene have been reported, but triplication or duplication of reciprocal region of Mowat-Wilson syndrome has nev  ...[more]

Similar Datasets

Unknown De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
| S-EPMC6035372 | biostudies-literature
Unknown De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
| S-EPMC7033032 | biostudies-literature
Unknown De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
| S-EPMC11291759 | biostudies-literature
Unknown A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies.
| S-EPMC4970238 | biostudies-literature
Unknown A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.
| S-EPMC5359547 | biostudies-literature
Unknown De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
| S-EPMC6731360 | biostudies-literature
Unknown Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
| S-EPMC6373978 | biostudies-literature
Unknown Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.
| S-EPMC6549555 | biostudies-literature
Unknown De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
| S-EPMC3851682 | biostudies-literature
Unknown Brain metabolic abnormalities associated with developmental venous anomalies.
| S-EPMC8013048 | biostudies-literature