Abstract
We report on a patient with a 1.2Mb 19p13.12-p13.13 deletion. Compared to previously reported individuals with partially overlapping deletions, the propositus presented with a less severe phenotype, consisting of mild intellectual disability and behavior anomalies, with episodes of simple febrile seizures and without significant physical anomalies or major malformations. The deleted region includes 29 coding genes, some of which have already been demonstrated to be involved in cognitive processes. Mutations in two of them, CC2D1A and TECR, were recently reported to be responsible for non-syndromal, autosomal recessive intellectual disability. The residual alleles of all of these genes were submitted to sequence analysis. No sequence variants were found that could be considered pathogenic. This patient constitutes a further example of the wide phenotypic variability associated with chromosomal rearrangements, likely due to the different size of deleted/duplicated segments.
| Original language | English |
|---|---|
| Pages (from-to) | 888-893 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 158 A |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 2012 |
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Keywords
- 19p13.12-p13.13 deletion
- Attention deficit hyperactivity disorder
- Intellectual disability
- Phenotypic variability
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Expanding the spectrum of rearrangements involving chromosome 19 : A mild phenotype associated with a 19p13.12-p13.13 deletion. / Marangi, Giuseppe; Orteschi, Daniela; Vigevano, Federico; Felie, Jillian; Walsh, Christopher A.; Manzini, M. Chiara; Neri, Giovanni.
In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 4, 04.2012, p. 888-893.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Expanding the spectrum of rearrangements involving chromosome 19
T2 - A mild phenotype associated with a 19p13.12-p13.13 deletion
AU - Marangi, Giuseppe
AU - Orteschi, Daniela
AU - Vigevano, Federico
AU - Felie, Jillian
AU - Walsh, Christopher A.
AU - Manzini, M. Chiara
AU - Neri, Giovanni
PY - 2012/4
Y1 - 2012/4
N2 - We report on a patient with a 1.2Mb 19p13.12-p13.13 deletion. Compared to previously reported individuals with partially overlapping deletions, the propositus presented with a less severe phenotype, consisting of mild intellectual disability and behavior anomalies, with episodes of simple febrile seizures and without significant physical anomalies or major malformations. The deleted region includes 29 coding genes, some of which have already been demonstrated to be involved in cognitive processes. Mutations in two of them, CC2D1A and TECR, were recently reported to be responsible for non-syndromal, autosomal recessive intellectual disability. The residual alleles of all of these genes were submitted to sequence analysis. No sequence variants were found that could be considered pathogenic. This patient constitutes a further example of the wide phenotypic variability associated with chromosomal rearrangements, likely due to the different size of deleted/duplicated segments.
AB - We report on a patient with a 1.2Mb 19p13.12-p13.13 deletion. Compared to previously reported individuals with partially overlapping deletions, the propositus presented with a less severe phenotype, consisting of mild intellectual disability and behavior anomalies, with episodes of simple febrile seizures and without significant physical anomalies or major malformations. The deleted region includes 29 coding genes, some of which have already been demonstrated to be involved in cognitive processes. Mutations in two of them, CC2D1A and TECR, were recently reported to be responsible for non-syndromal, autosomal recessive intellectual disability. The residual alleles of all of these genes were submitted to sequence analysis. No sequence variants were found that could be considered pathogenic. This patient constitutes a further example of the wide phenotypic variability associated with chromosomal rearrangements, likely due to the different size of deleted/duplicated segments.
KW - 19p13.12-p13.13 deletion
KW - Attention deficit hyperactivity disorder
KW - Intellectual disability
KW - Phenotypic variability
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U2 - 10.1002/ajmg.a.35254
DO - 10.1002/ajmg.a.35254
M3 - Article
C2 - 22419660
AN - SCOPUS:84859005756
VL - 158 A
SP - 888
EP - 893
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -