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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Verscaj, Courtney P; Velez-Bartolomei, Frances; Bodle, Ethan; Chan, Katie; Lyons, Michael J; Thorson, Willa; Tan, Wen-Hann; Rodig, Nancy; Graham, John M; Peron, Angela; Quintero-Rivera, Fabiola; Zackai, Elaine H; Thomas, Mary Ann; Stevens, Cathy A; Adam, Margaret P; Bird, Lynne M; Jones, Marilyn C; Matalon, Dena R.
Afiliação
  • Verscaj CP; Stanford University, Palo Alto, California, USA.
  • Velez-Bartolomei F; University of Puerto Rico, School of Medicine, San Juan, PR, USA.
  • Bodle E; Stanford University, Palo Alto, California, USA.
  • Chan K; Stanford University, Palo Alto, California, USA.
  • Lyons MJ; Greenwood Genetic Center, Miami, Florida, USA.
  • Thorson W; University of Miami Miller School of Medicine, Miami, Florida, USA.
  • Tan WH; Boston Children's Hospital, Boston, Massachusetts, USA.
  • Rodig N; Boston Children's Hospital, Boston, Massachusetts, USA.
  • Graham JM; Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine, Los Angeles, California, USA.
  • Peron A; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy.
  • Quintero-Rivera F; Departments of Pathology, Laboratory Medicine, and Pediatrics, Division of Genetic and Genomic Medicine School of Medicine, University of California Irvine, Irvine, California, USA.
  • Zackai EH; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Thomas MA; Departments of Medical Genetics and Pediatrics, University of Calgary, Calgary, Alberta, Canada.
  • Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.
  • Adam MP; University of Washington, Seattle, Washington, USA.
  • Bird LM; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA.
  • Jones MC; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA.
  • Matalon DR; Stanford University, Palo Alto, California, USA.
Prenat Diagn ; 44(2): 237-246, 2024 02.
Article em En | MEDLINE | ID: mdl-37632214
OBJECTIVE: Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including congenital abnormalities of the kidney and urinary tract (CAKUT), maturity onset diabetes of the young, type 5, and neurodevelopmental disorders. Structural and/or functional renal disease is the most common phenotypic feature, although the prenatal renal phenotypes and the postnatal correlates have not been well characterized. METHOD: We reviewed pre- and postnatal medical records of 26 cases with prenatally or postnatally identified 17q12/HNF1B microdeletions (by chromosomal microarray or targeted gene sequencing), obtained through a multicenter collaboration. We specifically evaluated 17 of these cases (65%) with reported prenatal renal ultrasound findings. RESULTS: Heterogeneous prenatal renal phenotypes were noted, most commonly renal cysts (41%, n = 7/17) and echogenic kidneys (41%), although nonspecific dysplasia, enlarged kidneys, hydronephrosis, pelvic kidney with hydroureter, and lower urinary tract obstruction were also reported. Postnatally, most individuals developed renal cysts (73%, 11/15 live births), and there were no cases of end-stage renal disease during childhood or the follow-up period. CONCLUSION: Our findings demonstrate that copy number variant analysis to assess for 17q12 microdeletion should be considered for a variety of prenatally detected renal anomalies. It is important to distinguish 17q12 microdeletion from other etiologies of CAKUT as the prognosis for renal function and presence of associated findings are distinct and may influence pregnancy and postnatal management.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Urogenitais / Refluxo Vesicoureteral / Doenças Renais Císticas / Nefropatias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Urogenitais / Refluxo Vesicoureteral / Doenças Renais Císticas / Nefropatias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos