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Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

Abstract 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.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29465581
OWN - NLM
STAT- MEDLINE
DCOM- 20180302
LR  - 20180302
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 8
DP  - 2018 Feb
TI  - Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative
      genes: A case report and literature review.
PG  - e9936
LID - 10.1097/MD.0000000000009936 [doi]
AB  - RATIONALE: 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 x 10 and 80 x 10/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.
FAU - Shi, Huiping
AU  - Shi H
AD  - Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu
      Institute of Hematology, The First Affiliated Hospital of Soochow University.
AD  - Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
FAU - Wang, Zhaoyue
AU  - Wang Z
AD  - Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu
      Institute of Hematology, The First Affiliated Hospital of Soochow University.
AD  - Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - Chromosome 22, microdeletion 22 q11
SB  - AIM
SB  - IM
MH  - Adolescent
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/genetics
MH  - DiGeorge Syndrome/*genetics
MH  - Female
MH  - Humans
EDAT- 2018/02/22 06:00
MHDA- 2018/03/03 06:00
CRDT- 2018/02/22 06:00
PHST- 2018/02/22 06:00 [entrez]
PHST- 2018/02/22 06:00 [pubmed]
PHST- 2018/03/03 06:00 [medline]
AID - 10.1097/MD.0000000000009936 [doi]
AID - 00005792-201802230-00046 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 Feb;97(8):e9936. doi: 10.1097/MD.0000000000009936.