Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation

Am J Med Genet A. 2017 Feb;173(2):550-552. doi: 10.1002/ajmg.a.38026. Epub 2016 Oct 19.

Authors

Maggie Brett¹, Angeline H M Lai^{2

3}, Teck-Wah Ting^{2

3}, Ah-Moy Tan^{3

4}, Roger Foo⁵, Saumya Jamuar^{2

3}, Ene-Choo Tan^{1

3}

Affiliations

¹ Research Laboratory, KK Women's and Children's Hospital, Singapore.
² Genetics Service, KK Women's and Children's Hospital, Singapore.
³ Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
⁴ Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore.
⁵ Genome Institute of Singapore, Singapore.

PMID: 27759915
DOI: 10.1002/ajmg.a.38026

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Base Sequence
Cleft Palate / diagnosis
Cleft Palate / genetics
Cleft Palate / pathology
Developmental Disabilities / diagnosis
Developmental Disabilities / genetics*
Developmental Disabilities / pathology
Dystonia / diagnosis
Dystonia / genetics
Dystonia / pathology
Exome Sequencing
GTP-Binding Protein beta Subunits / genetics*
Gene Expression
Germ-Line Mutation*
Humans
Male
Muscle Hypotonia / diagnosis
Muscle Hypotonia / genetics
Muscle Hypotonia / pathology
Precursor Cell Lymphoblastic Leukemia-Lymphoma / diagnosis
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology
Strabismus / diagnosis
Strabismus / genetics
Strabismus / pathology

Substances

GNB1 protein, human
GTP-Binding Protein beta Subunits