Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes AbstractRationale:22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype–genotype studies have revealed several causative genes that regulate the development of the third and fourth pharyngeal arches in human. However, the exact pathogenesis of this syndrome remains unknown. Herein, we report a case of 22q11 deletion syndrome with an atypical microdeletion of 125 kb.Patient concerns:A 15-year-old Chinese girl presented with symptoms of facial dysmorphia, cardiac defects, velopharyngeal insufficiency, splenomegaly, immunodeficiency, and thrombocytopenia.Diagnoses:Microarray analysis revealed a 22q11.23 deletion of 125 kb (chromosome 22: 24276973–24402263), suggesting the diagnosis of 22q11 deletion syndrome. The haploinsufficient genes included GSTT2B, GSTT2, DDTL, DDT, GSTTP1, LOC391322, GSTT1, and GSTTP2.Interventions:The patient was administrated glucocorticoids and calcium supplements.Outcomes:No epistaxis or petechiae episode occurred during the follow-up; her platelet count ranged between 60 × 109 and 80 × 109/L.Lessons:Although none of the previous reported causative genes were affected in the patient, her clinical manifestations were typical of 22q11 deletion syndrome, apart from her progressive splenomegaly. This case indicated 8 new candidate pathogenic genes for 22q11 deletion syndrome. Given that the loss of these genes was sufficient to induce 22q11DS defects, whether these genes directly influence the pathogenesis of 22q11DS or through interactions with known hotspot mutations is worthy of research. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Medicine Wolters Kluwer Health

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes

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Publisher
Wolters Kluwer
Copyright
Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc.
ISSN
0025-7974
eISSN
1536-5964
D.O.I.
10.1097/MD.0000000000009936
Publisher site
See Article on Publisher Site

Abstract

AbstractRationale:22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype–genotype studies have revealed several causative genes that regulate the development of the third and fourth pharyngeal arches in human. However, the exact pathogenesis of this syndrome remains unknown. Herein, we report a case of 22q11 deletion syndrome with an atypical microdeletion of 125 kb.Patient concerns:A 15-year-old Chinese girl presented with symptoms of facial dysmorphia, cardiac defects, velopharyngeal insufficiency, splenomegaly, immunodeficiency, and thrombocytopenia.Diagnoses:Microarray analysis revealed a 22q11.23 deletion of 125 kb (chromosome 22: 24276973–24402263), suggesting the diagnosis of 22q11 deletion syndrome. The haploinsufficient genes included GSTT2B, GSTT2, DDTL, DDT, GSTTP1, LOC391322, GSTT1, and GSTTP2.Interventions:The patient was administrated glucocorticoids and calcium supplements.Outcomes:No epistaxis or petechiae episode occurred during the follow-up; her platelet count ranged between 60 × 109 and 80 × 109/L.Lessons:Although none of the previous reported causative genes were affected in the patient, her clinical manifestations were typical of 22q11 deletion syndrome, apart from her progressive splenomegaly. This case indicated 8 new candidate pathogenic genes for 22q11 deletion syndrome. Given that the loss of these genes was sufficient to induce 22q11DS defects, whether these genes directly influence the pathogenesis of 22q11DS or through interactions with known hotspot mutations is worthy of research.

Journal

MedicineWolters Kluwer Health

Published: Feb 1, 2018

References

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