Publications by authors named "Stephanie Q Zhang"

3 Publications

  • Page 1 of 1

Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes.

Eur J Med Genet 2020 Mar 15;63(3):103736. Epub 2019 Aug 15.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA. Electronic address:

Deletions and duplications involving the CNTN4 gene, which encodes for the contactin 4 protein, have been reported in children with autism spectrum disorder (ASD) and other neurodevelopmental phenotypes. In this study, we performed clinical and genetic characterization of three individuals from unrelated families with copy number variants (CNV) (one deletion and two duplications) within CNTN4. The patients exhibited cognitive delay (3/3), growth restriction (3/3), motor delay (2/3), and febrile seizure/epilepsy (2/3). In contrast to previous reports, all probands presented with speech apraxia or delay with no diagnosis of ASD. Parental studies for the proband with the deletion and one of the 2 probands with the duplication revealed paternal origin of the CNTN4 CNV. Interestingly, previously documented CNV involving this gene were mostly inherited from unaffected fathers, raising questions regarding reduced penetrance and potential parent-of-origin effect. Our findings are compared with previously reported patients and patients in the DECIPHER database. The speech impairment in the three probands suggests a role for CNTN4 in language development. We discuss potential factors contributing to phenotypic heterogeneity and reduced penetrance and attempt to find possible genotype-phenotype correlation. Larger cohorts are needed for comprehensive and unbiased phenotyping and molecular characterization that may lead to better understanding of the underlying mechanisms of reduced penetrance, variable expressivity, and potential parent-of-origin effect of copy number variants encompassing CNTN4.
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March 2020

Length of Resuscitation for Severely Depressed Newborns.

Am J Perinatol 2020 07 5;37(9):933-938. Epub 2019 Jun 5.

Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri.

Objective: Current guidelines for neonatal resuscitation suggest it may be reasonable to stop resuscitation after 10 minutes in infants born with no detectable heartbeat. This study describes the length of resuscitation provided in a cohort of profoundly compromised newborn infants.

Study Design: Chart review of a regional hospital system database of newborn infants from 2010 to 2017 with a documented 10-minute Apgar score of 0 or 1.

Results: From a total birth population of 49,876 infants, 172 newborns were identified. Of these, 133 infants did not receive resuscitation and died while receiving comfort care. In the 39 resuscitated infants, 15 (38%) achieved return of spontaneous circulation (ROSC) at an average of 20 minutes; 32 of these 39 newborns (82%) died within 24 hours. Average time to ROSC for survivors was 17.8 minutes. Death or severe neurologic disability at 15 to 24 months of age was present in 92% (36/39) of resuscitated infants.

Conclusion: Prolonged resuscitation of newborns is rare. In this cohort, 92% died or had severe neurodevelopmental disability. Infants with ROSC received 20 minutes of resuscitation. Infants with ROSC typically did not survive beyond 24 hours unless they survived to discharge. To increase the number of infants with ROSC, continuing resuscitation beyond 10 minutes may be reasonable.
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July 2020

Retinoic acid receptor beta variant-related colonic hypoganglionosis.

Am J Med Genet A 2019 05 20;179(5):817-821. Epub 2019 Feb 20.

Department of Surgery, Division of Pediatrics, Saint Louis University School of Medicine, Saint Louis, Missouri.

Retinoic acid receptor beta (RARB) variants are heavily linked to pathologies of neural crest cell migration. The purpose of this report is to present a 23-month-old male with the previously described R387C RARB gain-of-function variant whose gastrointestinal issues and long-term constipation lead to the discovery of colonic hypoganglionosis. This case further delineates the pattern of malformation associated with RARB variants. The findings are also consistent with the known etiology of aganglionic colon due to failed neural crest cell migration.
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May 2019