Top

Journal of Medical Case Reports

Published in:

Open Access 01-12-2016 | Case report

Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report

Authors: Thomas Bogs, Florian Kipfmüller, Nicolai Kohlschmidt, Ulrich Gembruch, Andreas Müller, Heiko Reutter

Published in: Journal of Medical Case Reports | Issue 1/2016

Abstract

Background

Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2).

Case presentation

We describe the first association of a de novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agenesis and left-sided, isolated congenital diaphragmatic hernia in his son, who inherited the chromosomal aberration from his father.

Conclusions

Given that the aberration occurred de novo in the father and was transmitted to his son, with both presenting with unilateral left-sided developmental field defects, we suggest a gene dosage effect of the tetrasomic region to be involved in the phenotype of our two patients. Furthermore, we suggest performing a genetic workup in multiplex families with congenital malformations.

Slavotinek AM. The genetics of common disorders – congenital diaphragmatic hernia. Eur J Med Genet. 2014;57:418–23.CrossRefPubMed

Pober BR. Genetic aspects of human congenital diaphragmatic hernia. Clin Genet. 2008;74:1–15.CrossRefPubMedPubMedCentral

Terui K, Taguchi T, Goishi K, Hayakawa M, Tazuke Y, Yokoi A, et al. Prognostic factors of gastroesophageal reflux disease in congenital diaphragmatic hernia: a multicenter study. Pediatr Surg Int. 2014;30:1129–34.CrossRefPubMed

Peetsold MG, Heij HA, Kneepkens CMF, Nagelkerke AF, Huisman J, Gemke RJBJ. The long-term follow-up of patients with a congenital diaphragmatic hernia: a broad spectrum of morbidity. Pediatr Surg Int. 2009;25:1–17.CrossRefPubMed

Brady PD, Srisupundit K, Devriendt K, Fryns J, Deprest JA, Vermeesch JR. Recent developments in the genetic factors underlying congenital diaphragmatic hernia. Fetal Diagn Ther. 2011;29:25–39.CrossRefPubMed

Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet. 1998;79:215–25.CrossRefPubMed

Siebert JR, Benjamin DR, Juul S, Glick PL. Urinary tract anomalies associated with congenital diaphragmatic defects. Am J Med Genet. 1990;37:1–5.CrossRefPubMed

Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, et al. De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet. 2012;49:650–9.CrossRefPubMedPubMedCentral

Stark Z, Behrsin J, Burgess T, Ritchie A, Yeung A, Tan TY, et al. SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia. Am J Med Genet A. 2015;167A:2319–26.CrossRefPubMed

10.

Mitchell SJ, Cole T, Redford DH. Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree. J Med Genet. 1997;34:601–3.CrossRefPubMedPubMedCentral

11.

Farag TI, Bastaki L, Marafie M, al-Awadi SA, Krsz J. Autosomal recessive congenital diaphragmatic defects in the Arabs. Am J Med Genet. 1994;50:300–1.CrossRefPubMed

12.

Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, et al. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet. 2005;1:58–65.CrossRefPubMed

13.

Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, et al. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet. 2013;132:285–92.CrossRefPubMed

14.

Beck TF, Shchelochkov OA, Yu Z, Kim BJ, Hernández-García A, Zaveri HP, et al. Novel Frem1-related mouse phenotypes and evidence of genetic interactions with Gata4 and Slit3. PLoS One. 2013;8:e58830.CrossRefPubMedPubMedCentral

15.

Pickard BS, Hollox EJ, Malloy MP, Porteous DJ, Blackwood DHR, Armour JAL, et al. 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation. BMC Med Genet. 2004;5:21.CrossRefPubMedPubMedCentral

16.

Cuturilo G, Menten B, Krstic A, Drakulic D, Jovanovic I, Parezanovic V, et al. 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome. Eur J Pediatr. 2011;170:1465–70.CrossRefPubMed

17.

Lin S, Kirk EPE, McKenzie F, Francis C, Shalhoub C, Turner AM. De novo interstitial duplication 4(q28.1q35) associated with choanal atresia. J Paediatr Child Health. 2004;40:401–3.CrossRefPubMed

18.

Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson A. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008;51:501–10.CrossRefPubMed

Title: Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report
Authors: Thomas Bogs
Florian Kipfmüller
Nicolai Kohlschmidt
Ulrich Gembruch
Andreas Müller
Heiko Reutter
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2016
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-016-0855-1

At a glance: The STEP trials

Springer Medicine

Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report

Abstract

Background

Case presentation

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2016

A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report

Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report

A 4-year-old child presenting morning onset of spontaneous tracheal rupture due to bronchial mucous plug occlusion during the nighttime sleep: a case report

Oral mucosal melanoma treated with carbon ion radiotherapy: a case report

A postmenopausal woman with sciatica from broad ligament leiomyoma: a case report

A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report